Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.H589Y
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ABCB4

NM_000443.4:p.H589Y

Associated Papers

Clinical, genetic and functional perspectives on ATP-binding cassette subfamily B member 4 variants in five cholestasis adults.

Weng YH et al.

World Journal of Gastroenterology, 2025

Ivacaftor-Mediated Potentiation of ABCB4 Missense Mutations Affecting Critical Motifs of the NBDs: Repositioning Perspectives for Hepatobiliary Diseases.

Delaunay JL et al.

International Journal of Molecular Sciences, 2023

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

Wang HH et al.

Genes, 2022

Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.

Poupon R et al.

Hepatology (baltimore, Md.), 2013

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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."