Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.A592_I593insA
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ATP8B1

NM_001374385.1:p.A592_I593insA

Associated Papers

Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.

Rhee ES et al.

Pediatric Gastroenterology, Hepatology & Nutrition, 2019

Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis.

Sharma A et al.

Bmc Gastroenterology, 2018

A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.

Sharma A et al.

Indian Pediatrics, 2016

Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V).

Narchi H et al.

Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 0

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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."