Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.R487L
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ABCB11

NM_003742.4:p.R487L

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 ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2?

Biolato M et al.

Gastroenterology Report, 2024

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

Kubitz R et al.

Clinics and Research in Hepatology and Gastroenterology, 2012

Genetic variations of the ABC transporter gene ABCB11 encoding the human bile salt export pump (BSEP) in a Japanese population.

Kim SR et al.

Drug Metabolism and Pharmacokinetics, 2009

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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."