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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCB11

Variant:p.K578_M584del7

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ABCB11

NM_003742.4:p.K578_M584del7

hg38:chr2:168970101 CCATGTCCAAAAGCAGAATCTT>C

Associated Papers

Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants.

Peng Z et al.

Clinical Genetics, 2025

39806568 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."