Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.Q520_K521Splc
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ABCB4

NM_000443.4:p.Q520_K521Splc

Associated Papers

Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.

Sharabati I et al.

Annals of Medicine and Surgery (2012), 2025

A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review.

Zheng Y et al.

Molecular Genetics & Genomic Medicine, 2024

Biliary atresia combined with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature.

Zhang BP et al.

Medicine, 2019

Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.

Qiu YL et al.

Hepatology (baltimore, Md.), 2017

28027573 (PubMed )
Supplement: HEP-65-1655-s001.pdf
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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."