Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.E665*
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ATP8B1

NM_001374385.1:p.E665*

Associated Papers

Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.

van Wessel DBE et al.

Hepatology (baltimore, Md.), 2021

33666275 (PubMed )
Supplement: HEP-74-892-s001.pdf

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

Rhee ES et al.

Pediatric Gastroenterology, Hepatology & Nutrition, 2019

Mutational analysis of ATP8B1 in patients with chronic pancreatitis.

van der Woerd WL et al.

Plos One, 2013

ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.

Davit-Spraul A et al.

Hepatology (baltimore, Md.), 2010

Update on progressive familial intrahepatic cholestasis.

Alissa FT et al.

Journal of Pediatric Gastroenterology and Nutrition, 2008

Characterization of mutations in ATP8B1 associated with hereditary cholestasis.

Klomp LW et al.

Hepatology (baltimore, Md.), 2004

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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."