Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.D243A
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ABCB4

NM_000443.4:p.D243A

Associated Papers

Identification of new correctors for traffic-defective ABCB4 variants by a high-content screening approach.

Lakli M et al.

Communications Biology, 2024

A novel compound heterozygous mutation in ABCB4 gene in a pedigree with progressive familial intrahepatic cholestasis 3: a case report.

Bai J et al.

Annals of Translational Medicine, 2021

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

Olsen JA et al.

Nature Structural & Molecular Biology, 2020

ABCB4/MDR3 in health and disease - at the crossroads of biochemistry and medicine.

Prescher M et al.

Biological Chemistry, 2019

ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population.

Andress EJ et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Hepatocellular transporters and cholestasis.

Pauli-Magnus C et al.

Journal of Clinical Gastroenterology, 2005

BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis.

Pauli-Magnus C et al.

Hepatology (baltimore, Md.), 2004

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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."