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    <title>样本位点库详情</title>
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        <span class="manageTitleText">样本位点库详情</span>
        <div class="manageTitleRightIcon">IGV</div>
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            <span>样本位点库详情</span>
        </div>
        <div class="ibox-content floatClear">
            <div class="floatClear">
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel" title="flag">flag</div>
                    <input class="somEditInput" type="text" value="database">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">database</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">ID</div>
                    <input class="somEditInput" type="text" value="LZ000234">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">LZ000234</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">Chr</div>
                    <input class="somEditInput" type="text" value="2">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">2</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">Start</div>
                    <input class="somEditInput" type="text" value="169787165">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">169787165</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">End</div>
                    <input class="somEditInput" type="text" value="169787165">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">169787165</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">Ref</div>
                    <input class="somEditInput" type="text" value="C">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">A</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">Alt</div>
                    <input class="somEditInput" type="text" value="T">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">T</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">Func.knownGene</div>
                    <input class="somEditInput" type="text" value="splicing">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">splicing</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">Gene.knownGene</div>
                    <input class="somEditInput" type="text" value="Gene.knownGene">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">Gene.knownGene</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">ExonicFunc.knownGene</div>
                    <input class="somEditInput" type="text" value="nonsynonymous SNV">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">nonsynonymous SNV</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">GeneDetail.knownGene</div>
                    <input class="somEditInput" type="text" value="GeneDetail.knownGene">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">GeneDetail.knownGene</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">CDS</div>
                    <input class="somEditInput" type="text" value="c.1737+10G>A">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">c.1737+10G>A</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">PEP</div>
                    <input class="somEditInput" type="text" value="p.Ile879Thr">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">p.Ile879Thr</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">AAChange.knownGene</div>
                    <input class="somEditInput" type="text" value="ABCB11:uc010zda.1:exon9:c.T962C:p.I321T,ABCB11:uc010zdb.1:exon9:c.T1064C:p.I355T,ABCB11:uc002ueo.1:exon22:c.T2636C:p.I879T">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">ABCB11:uc010zda.1:exon9:c.T962C:p.I321T,ABCB11:uc010zdb.1:exon9:c.T1064C:p.I355T,ABCB11:uc002ueo.1:exon22:c.T2636C:p.I879T</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">cytoBand</div>
                    <input class="somEditInput" type="text" value="2q31.1">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">2q31.1</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">avsnp150</div>
                    <input class="somEditInput" type="text" value="rs188996270">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">rs188996270</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">Rare_SNP</div>
                    <input class="somEditInput" type="text" value="0">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">0</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">gnomAD_exome_ALL</div>
                    <input class="somEditInput" type="text" value="0.00007938">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">0.00007938</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">gnomAD_exome_EAS</div>
                    <input class="somEditInput" type="text" value="0.001">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">0.001</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">gnomAD_genome_ALL</div>
                    <input class="somEditInput" type="text" value="0.00006457">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">0.00006457</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">gnomAD_genome_EAS</div>
                    <input class="somEditInput" type="text" value="0">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">0</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">1000g2015aug_all</div>
                    <input class="somEditInput" type="text" value="0.000399361">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">0.000399361</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">1000g2015_Chinese</div>
                    <input class="somEditInput" type="text" value="0.00332226">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">0.00332226</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">1000g2015_exac03newALL</div>
                    <input class="somEditInput" type="text" value="0.00009243">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">0.00009243</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">1000g2015_exac03newEAS</div>
                    <input class="somEditInput" type="text" value="0.0012">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">0.0012</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">1000g2015_CombineWGS</div>
                    <input class="somEditInput" type="text" value="0.00332226">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">0.00332226</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">1000g2018_CombineWES</div>
                    <input class="somEditInput" type="text" value="0.000388651">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">0.000388651</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">NovoAF_ALT_AF</div>
                    <input class="somEditInput" type="text" value="0.000107">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">0.000107</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">Interpro_domain</div>
                    <input class="somEditInput" type="text" value="ABC">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">ABC</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">anno_DP</div>
                    <input class="somEditInput" type="text" value="141">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">141</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">ALT_RATE</div>
                    <input class="somEditInput" type="text" value="0.45">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">0.45</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">MQ</div>
                    <input class="somEditInput" type="text" value="database">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">MQ</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">anno_het/hom</div>
                    <input class="somEditInput" type="text" value="het">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">het</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">Warning</div>
                    <input class="somEditInput" type="text" value="-|-">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">-|-</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">Protein</div>
                    <input class="somEditInput" type="text" value="-|-">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">-|-</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">SIFT;Polyphen2_HVAR;Polyphen2_HDIV;MutationTaster;M-CAP;CADD_phred</div>
                    <input class="somEditInput" type="text" value="Deleterious;Possibly_damaging;Possibly_damaging;Disease_causing;Disease_causing;27.1">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">Deleterious;Possibly_damaging;Possibly_damaging;Disease_causing;Disease_causing;27.1</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">HGMD_All_type</div>
                    <input class="somEditInput" type="text" value="0">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">0</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">snp/indel</div>
                    <input class="somEditInput" type="text" value="snp">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">snp</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">HGMD;COSMIC</div>
                    <input class="somEditInput" type="text" value="HGMD_ID;.">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">HGMD_ID;.</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">AA_type</div>
                    <input class="somEditInput" type="text" value="0">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">0</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">cosmic81</div>
                    <input class="somEditInput" type="text" value=".">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">.</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">CLNDN;CLNHGVS;CLNREVSTAT;CLNSIG</div>
                    <input class="somEditInput" type="text" value="2 stars out of maximum of 4 stars">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">2 stars out of maximum of 4 stars</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">CLINVAR_hgvs</div>
                    <input class="somEditInput" type="text" value="NG_007374.1:g.64444C>T;NM_003742.2:c.1605C>T;NP_003733.2:p.Ala535=;NC_000002.12:g.168971880G>A (GRCh38);NC_000002.11:g.169828390G>A (GRCh37)">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">NG_007374.1:g.64444C>T;NM_003742.2:c.1605C>T;NP_003733.2:p.Ala535=;NC_000002.12:g.168971880G>A (GRCh38);NC_000002.11:g.169828390G>A (GRCh37)</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">CLINVAR_ALLELEID</div>
                    <input class="somEditInput" type="text" value="191546">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">191546</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">CLINVAR_variation_title</div>
                    <input class="somEditInput" type="text" value="NM_003742.2(ABCB11):c.1605C>T (p.Ala535=) Simple - Variation Report - ClinVar - NCBI">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">NM_003742.2(ABCB11):c.1605C>T (p.Ala535=) Simple - Variation Report - ClinVar - NCBI</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">CLINVAR_last_evaluated</div>
                    <input class="somEditInput" type="text" value="42822">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">42822</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">CLINVAR_clinical_significance</div>
                    <input class="somEditInput" type="text" value=".">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">.</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">CLINVAR_condition</div>
                    <input class="somEditInput" type="text" value=".">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">.</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">CLINVAR_supporting_clinvar_record</div>
                    <input class="somEditInput" type="text" value="NM_003742.2(ABCB11):c.1605C>T (p.Ala535=) AND not specified">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">NM_003742.2(ABCB11):c.1605C>T (p.Ala535=) AND not specified</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">CLINVAR_variant_type</div>
                    <input class="somEditInput" type="text" value="Chr2: 168971880 (on Assembly GRCh38);Chr2: 169828390 (on Assembly GRCh37)">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">Chr2: 168971880 (on Assembly GRCh38);Chr2: 169828390 (on Assembly GRCh37)</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">CLINVAR_clinical_assertions_citation</div>
                    <input class="somEditInput" type="text" value=".">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">.</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">CLINVAR_summary_evidence_citation</div>
                    <input class="somEditInput" type="text" value=".">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">.</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">CLINVAR_supporting_observations_citation</div>
                    <input class="somEditInput" type="text" value="criteria provided, single submitterEGL Classification Definitions(http://www.egl-eurofins.com/emvclass/EGLClassificationDefinitions.php)<>criteria provided, single submitterGeneDx Variant Classification (06012015)(https://submit.ncbi.nlm.nih.gov/ft/byid/7oynscmk/mdi-5616_26957_genedx_interprules_final_061215.pdf)">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">criteria provided, single submitterEGL Classification Definitions(http://www.egl-eurofins.com/emvclass/EGLClassificationDefinitions.php)<>criteria provided, single submitterGeneDx Variant Classification (06012015)(https://submit.ncbi.nlm.nih.gov/ft/byid/7oynscmk/mdi-5616_26957_genedx_interprules_final_061215.pdf)</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">CLINVAR_summary_evidence_description</div>
                    <input class="somEditInput" type="text" value="clinical testing<>clinical testing">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">clinical testing<>clinical testing</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">CLINVAR_supporting_observations_description</div>
                    <input class="somEditInput" type="text" value="not specified[MedGen] (https://www.ncbi.nlm.nih.gov/medgen/CN169374)<>not specified[MedGen] (https://www.ncbi.nlm.nih.gov/medgen/CN169374)">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">not specified[MedGen] (https://www.ncbi.nlm.nih.gov/medgen/CN169374)<>not specified[MedGen] (https://www.ncbi.nlm.nih.gov/medgen/CN169374)</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">splicing_ada_score;rf_score;dpsi_max_tissue;dpsi_zscore</div>
                    <input class="somEditInput" type="text" value=".;.;0.5133;1.145">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">.;.;0.5133;1.145</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">Gene_Symbol</div>
                    <input class="somEditInput" type="text" value="ABCB11">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">ABCB11</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">HGMD_ID</div>
                    <input class="somEditInput" type="text" value="CM062372">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">CM062372</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">Trans_Num</div>
                    <input class="somEditInput" type="text" value="ENST00000263817">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">ENST00000263817</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">Func</div>
                    <input class="somEditInput" type="text" value=".">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">.</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">Omim_ID</div>
                    <input class="somEditInput" type="text" value="603201">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">603201</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">Variant</div>
                    <input class="somEditInput" type="text" value="ATT-ACT|Ile498Thr|c.1493T>C|p.I498T">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">ATT-ACT|Ile498Thr|c.1493T>C|p.I498T</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">Flag</div>
                    <input class="somEditInput" type="text" value="1493">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">1493</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">flag</div>
                    <input class="somEditInput" type="text" value="database">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">database</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">cds_ref</div>
                    <input class="somEditInput" type="text" value="Y">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">Y</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">cds_alt</div>
                    <input class="somEditInput" type="text" value="C">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">C</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">hg19_ref</div>
                    <input class="somEditInput" type="text" value="A">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">A</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">RefUpDown2bp</div>
                    <input class="somEditInput" type="text" value="CAATC">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">CAATC</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">ACMG对应条目</div>
                    <input class="somEditInput" type="text" value="无">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">无</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">位点结论</div>
                    <input class="somEditInput" type="text" value="意义不明">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">意义不明</textarea>
                </div>
                <div class="somEditInputBox floatLeft">
                    <div class="somEditInputLabel">位点描述</div>
                    <input class="somEditInput" type="text" value="本筛查检测出ABCB11基因的变异，变异位点为c.1737+10G>A，查询公共数据库及文献显示，c.1737+10G>A变异可能会导致剪接位点变异。该变异在gnomAD东亚人群检出频率为0.0010、千人项目中国人群检出频率为0.00332226、ExAC数据库东亚人群检出频率为0.0012。综合已有证据判定该变异的致病性为意义不明。具体情况请结合临床相关资料综合判断。">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">本筛查检测出ABCB11基因的变异，变异位点为c.1737+10G>A，查询公共数据库及文献显示，c.1737+10G>A变异可能会导致剪接位点变异。该变异在gnomAD东亚人群检出频率为0.0010、千人项目中国人群检出频率为0.00332226、ExAC数据库东亚人群检出频率为0.0012。综合已有证据判定该变异的致病性为意义不明。具体情况请结合临床相关资料综合判断。</textarea>
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                    <div class="somEditInputLabel">参考文献</div>
                    <input class="somEditInput" type="text" value="Lam C W, Cheung K M, Tsui M S, et al. A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2[J]. Journal of Hepatology, 2006, 44(1): 240-242.">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">Lam C W, Cheung K M, Tsui M S, et al. A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2[J]. Journal of Hepatology, 2006, 44(1): 240-242.</textarea>
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                    <input class="somEditInput" type="text" value="c.1737+10G>A">
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                    <input class="somEditInput" type="text" value="p.Ile879Thr">
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                    <input class="somEditInput" type="text" value="ABCB11基因位于2q24，编码胆汁酸盐输出蛋白，位于肝脏中。胆汁酸盐在肝脏中合成，被胆汁酸盐输出蛋白运送至肝细胞外，并成为胆汁中的成分之一，从而参与脂肪分解。肝细胞中胆汁酸盐的释放对胆汁的正常分泌非常重要。ABCB11基因与隐性遗传的进行性家族性肝内胆汁淤积症2型相关。">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">ABCB11基因位于2q24，编码胆汁酸盐输出蛋白，位于肝脏中。胆汁酸盐在肝脏中合成，被胆汁酸盐输出蛋白运送至肝细胞外，并成为胆汁中的成分之一，从而参与脂肪分解。肝细胞中胆汁酸盐的释放对胆汁的正常分泌非常重要。ABCB11基因与隐性遗传的进行性家族性肝内胆汁淤积症2型相关。</textarea>
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                    <div class="somEditInputLabel">疾病亚型（中文）</div>
                    <input class="somEditInput" type="text" value="进行性家族性肝内胆汁淤积症2型">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">进行性家族性肝内胆汁淤积症2型</textarea>
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                    <input class="somEditInput" type="text" value="消化系统">
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                    <div class="somEditInputLabel">疾病描述</div>
                    <input class="somEditInput" type="text" value="进行性家族性肝内胆汁淤积症（Progressive familial intrahepatic cholestasis, PFIC）是一组常染色体隐性遗传的进行性肝脏疾病，因基因突变导致胆汁排泌障碍，临床以肝内胆汁淤积为主要表现，通常在婴儿期或儿童期起病，最终可导致肝衰竭。PFIC的1-3亚型新生儿发病率约1/50,000-1/100,000。进行性家族性肝内胆汁淤积症2型（Cholestasis, progressive familial intrahepatic 2, PFIC2）涉及ABCB11基因突变，是一种早发性胆汁淤积症，主要在婴幼儿期发病。ABCB11基因突变会引发复发性良性肝内胆汁淤积症2型，此类患者偶有胆汁分泌障碍，导致严重的皮肤瘙痒、发黄和黄疸。但是症状恶化时，患者可能会被诊断为进行性家族性肝内胆汁淤积症2型。受累个体的胆汁酸盐输出量下降50%左右，由此引发的肝细胞内胆汁酸盐积累会导致进行性家族性肝内胆汁淤积症。疾病会发展为肝纤维化、肝硬化和终末期肝病。">
                    <textarea class="somEditTextArea" name="" id="" cols="30" rows="10">进行性家族性肝内胆汁淤积症（Progressive familial intrahepatic cholestasis, PFIC）是一组常染色体隐性遗传的进行性肝脏疾病，因基因突变导致胆汁排泌障碍，临床以肝内胆汁淤积为主要表现，通常在婴儿期或儿童期起病，最终可导致肝衰竭。PFIC的1-3亚型新生儿发病率约1/50,000-1/100,000。进行性家族性肝内胆汁淤积症2型（Cholestasis, progressive familial intrahepatic 2, PFIC2）涉及ABCB11基因突变，是一种早发性胆汁淤积症，主要在婴幼儿期发病。ABCB11基因突变会引发复发性良性肝内胆汁淤积症2型，此类患者偶有胆汁分泌障碍，导致严重的皮肤瘙痒、发黄和黄疸。但是症状恶化时，患者可能会被诊断为进行性家族性肝内胆汁淤积症2型。受累个体的胆汁酸盐输出量下降50%左右，由此引发的肝细胞内胆汁酸盐积累会导致进行性家族性肝内胆汁淤积症。疾病会发展为肝纤维化、肝硬化和终末期肝病。</textarea>
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