Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.G477Splc
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ATP8B1

NM_001374385.1:p.G477Splc

Associated Papers

Clinicopathologic Features, Genetics, Treatment, and Long-Term Outcomes in Japanese Children and Young Adults with Benign Recurrent Intrahepatic Cholestasis: A Multicenter Study.

Kato K et al.

Journal of Clinical Medicine, 2023

Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.

Xie S et al.

Frontiers in Pharmacology, 2023

Case Report: A Rare Case of Benign Recurrent Intrahepatic Cholestasis-Type 1 With a Novel Heterozygous Pathogenic Variant of ATP8B1.

Suzuki H et al.

Frontiers in Medicine, 2022

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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."