Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.A277E
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ABCB11

NM_003742.4:p.A277E

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

Description of two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family.

Beauséjour Y et al.

Canadian Journal of Gastroenterology = Journal Canadien De Gastroenterologie, 2011

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