Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.R296C
Back to variants list

ATP8B1

NM_001374385.1:p.R296C

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

The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.

Wang NL et al.

Plos One, 2016

Hypothyroidism Associated with ATP8B1 Deficiency.

Li L et al.

The Journal of Pediatrics, 2015

Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.

Giovannoni I et al.

Plos One, 2015

Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy.

Schneider G et al.

Hepatology (baltimore, Md.), 2007

FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels.

Chen HL et al.

The Journal of Pediatrics, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."