Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.A953D
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ABCB4

NM_000443.4:p.A953D

Associated Papers

Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.

Sharabati I et al.

Annals of Medicine and Surgery (2012), 2025

Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.

Wang HH et al.

Genes, 2022

Structure of the human lipid exporter ABCB4 in a lipid environment.

Olsen JA et al.

Nature Structural & Molecular Biology, 2020

Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.

Schatz SB et al.

Hepatology Communications, 2018

Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.

Khabou B et al.

The International Journal of Biochemistry & Cell Biology, 2017

Targeted pharmacotherapies for defective ABC transporters.

Vauthier V et al.

Biochemical Pharmacology, 2017

Functional Rescue of Trafficking-Impaired ABCB4 Mutants by Chemical Chaperones.

Gordo-Gilart R et al.

Plos One, 2016

ABCB4: Insights from pathobiology into therapy.

Falguières T et al.

Clinics and Research in Hepatology and Gastroenterology, 2014

Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4.

Andress EJ et al.

Hepatology (baltimore, Md.), 2014

Molecular mechanisms for biliary phospholipid and drug efflux mediated by ABCB4 and bile salts.

Morita SY et al.

Biomed Research International, 2014

Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3.

Poupon R et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2010

Expression and localization of hepatobiliary transport proteins in progressive familial intrahepatic cholestasis.

Keitel V et al.

Hepatology (baltimore, Md.), 2005

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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."