Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.R469W
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ABCB4

NM_000443.4:p.R469W

Associated Papers

VarMeter: a prediction method for the impact of glycogene variants.

Ohno S et al.

Journal of Human Genetics, 2025

Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.

Vitale G et al.

Cancers, 2022

Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma.

de Vries E et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2020

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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."