Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.A1044P
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ABCB11

NM_003742.4:p.A1044P

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

Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.

Dröge C et al.

Journal of Hepatology, 2017

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

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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."