Varaico: Literature-Extracted Genetic Variants

Gene:ABCB5
Variant:p.S925I
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ABCB5

NM_001163941.2:p.S925I

Associated Papers

A Rare ABCB5 Variant in a Familial Case of Intrahepatic Cholestasis of Pregnancy: A Potential Novel Genetic Contributor.

Kędzia M et al.

Journal of Clinical Medicine, 2025

Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy.

Liu X et al.

Frontiers in Genetics, 2022

36046230 (PubMed )
Supplement: Table3.XLSX › Sheet1

Whole-exome sequencing identifies novel mutations in ABC transporter genes associated with intrahepatic cholestasis of pregnancy disease: a case-control study.

Liu X et al.

Bmc Pregnancy and Childbirth, 2021

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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."