Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.Y924C
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ATP8B1

NM_001374385.1:p.Y924C

Associated Papers

Odevixibat for Episodic Intrahepatic Cholestasis due to Biallelic Mutations in ATP8B1: A Case Series.

Di Giorgio A et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2025

FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.

Badura-Stronka M et al.

Molecular Genetics & Genomic Medicine, 2022

35255187 (PubMed )
Supplement: MGG3-10-e1899-s002.xlsx › P11

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.

James KN et al.

Npj Genomic Medicine, 2020

32821428 (PubMed )
Supplement: 41525_2020_140_MOESM1_ESM.pdf

Mutational analysis of ATP8B1 in patients with chronic pancreatitis.

van der Woerd WL et al.

Plos One, 2013

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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."