Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.G455E
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ABCB11

NM_003742.4:p.G455E

Associated Papers

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

A novel mutation within a transmembrane helix of the bile salt export pump (BSEP, ABCB11) with delayed development of cirrhosis.

Stindt J et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2013

The bile salt export pump (BSEP) in health and disease.

Kubitz R et al.

Clinics and Research in Hepatology and Gastroenterology, 2012

ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.

Davit-Spraul A et al.

Hepatology (baltimore, Md.), 2010

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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."