Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.F522S
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ABCB4

NM_000443.4:p.F522S

Associated Papers

Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom.

Zöllner J et al.

Scientific Reports, 2023

The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum.

Bakır A et al.

Annals of Human Genetics, 2022

ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed.

Avena 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, 2021

ABCB4-alteration screening in adult-onset cholestasis.

Carbone M et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2021

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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."