Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.R487C
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ABCB11

NM_003742.4:p.R487C

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

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

Zöllner J et al.

Scientific Reports, 2023

ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.

Li LT et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2020

Changes in plasma bile acid profiles after partial internal biliary diversion in PFIC2 patients.

Liu T et al.

Annals of Translational Medicine, 2020

Predicting drug response and toxicity based on gene polymorphisms.

Robert J et al.

Critical Reviews in Oncology/hematology, 2005

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