Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.V479L
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ABCB11

NM_003742.4:p.V479L

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

Clinical profiles and diagnostic challenges in 1158 children with rare hepatobiliary disorders.

Dong Y et al.

Pediatric Research, 2021

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

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