Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.I516V
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ABCB11

NM_003742.4:p.I516V

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

Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma.

de Vries E et al.

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

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