Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.G477Splc
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ATP8B1

NM_001374385.1:p.G477Splc

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

Long-term Outcomes of Living-donor Liver Transplantation for Progressive Familial Intrahepatic Cholestasis Type 1.

Okamoto T et al.

Journal of Pediatric Gastroenterology and Nutrition, 2021

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

Wang NL et al.

Plos One, 2016

Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.

van der Woerd WL et al.

Hepatology (baltimore, Md.), 2015

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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."