Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.E429A
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ATP8B1

NM_001374385.1:p.E429A

Associated Papers

Influence of the Bile Acid Transporter Genes ABCB4, ABCB8, and ABCB11 and the Farnesoid X Receptor on the Response to Ursodeoxycholic Acid in Patients with Nonalcoholic Steatohepatitis.

Kreimeyer H et al.

Journal of Personalized Medicine, 2023

Common ABCB4 and ABCB11 Genotypes Are Associated with Idiopathic Chronic Cholestasis in Adults.

Jüngst C et al.

Digestive Diseases (basel, Switzerland), 2022

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

Rhee ES et al.

Pediatric Gastroenterology, Hepatology & Nutrition, 2019

Persisting hyperbilirubinemia in patients with paroxysmal nocturnal hemoglobinuria (PNH) chronically treated with eculizumab: The role of hepatocanalicular transporter variants.

Alashkar F et al.

European Journal of Haematology, 2017

NOD2 gene variants confer risk for secondary sclerosing cholangitis in critically ill patients.

Jüngst C et al.

Scientific Reports, 2017

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Repository of mutations from Oman: The entry point to a national mutation database.

Rajab A et al.

F1000research, 2015

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

Prolonged cholestasis triggered by hepatitis A virus infection and variants of the hepatocanalicular phospholipid and bile salt transporters.

Krawczyk M et al.

Annals of Hepatology, 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."