Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.A1028V
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ABCB11

NM_003742.4:p.A1028V

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

Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy.

Dai J et al.

Journal for Immunotherapy of Cancer, 2023

36593066 (PubMed )
Supplement: jitc-2022-005937supp007.xls › Supplemental_Table_3

Benign recurrent intrahepatic cholestasis type 2 in a child: A case report and novel mutation.

Akbulut UE et al.

Turkish Archives of Pediatrics, 2021

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