Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.G536R
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ABCB4

NM_000443.4:p.G536R

Associated Papers

A genes and health recall study of intrahepatic cholestasis of pregnancy and cholestatic liver disease.

Constantinides M et al.

Communications Medicine, 2025

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

Olsen JA et al.

Nature Structural & Molecular Biology, 2020

ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.

Reichert MC et al.

Seminars in Liver Disease, 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 defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).

Delaunay JL et al.

Hepatology (baltimore, Md.), 2017

The pathophysiology of intrahepatic cholestasis of pregnancy.

Dixon PH et al.

Clinics and Research in Hepatology and Gastroenterology, 2016

The molecular genetics of intrahepatic cholestasis of pregnancy.

Dixon PH et al.

Obstetric Medicine, 2008

Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy.

Floreani A et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2008

Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations.

Floreani A et al.

Alimentary Pharmacology & Therapeutics, 2006

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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."