Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.E616K
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ABCB4

NM_000443.4:p.E616K

Associated Papers

Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease.

Hegarty R et al.

Journal of Pediatric Gastroenterology and Nutrition, 2024

Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis.

Vitale G et al.

International Journal of Molecular Sciences, 2023

Contraceptive vaginal ring-induced cholestasis in a patient with a history of intrahepatic cholestasis of pregnancy.

Perrault F et al.

Clinics and Research in Hepatology and Gastroenterology, 2021

ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.

Degiorgio D et al.

Journal of Gastroenterology, 2016

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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."