Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.M516V
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ABCB4

NM_000443.4:p.M516V

Associated Papers

The Mutational Landscape Of Genetic Cholestatic Diseases In Pakistani Children.

Cheema HA et al.

Jpma. the Journal of the Pakistan Medical Association, 2023

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."