Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.R1050H
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ABCB11

NM_003742.4:p.R1050H

Associated Papers

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

Constantinides M et al.

Communications Medicine, 2025

An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant.

Bell EL et al.

Journal of Lipid Research, 2025

40513781 (PubMed )
Supplement: mmc1.xlsx › Supplemental_Table_1

The spectrum of novel ABCB11 gene variations in children with progressive familial intrahepatic cholestasis type 2 in Pakistani cohorts.

Riaz H et al.

Scientific Reports, 2024

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

Zöllner J et al.

Scientific Reports, 2023

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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."