Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.A679V
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ABCB11

NM_003742.4:p.A679V

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

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

Zöllner J et al.

Scientific Reports, 2023

Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.

Nayagam JS et al.

Hepatology Communications, 2022

Latency and interval therapy affect the evolution in metastatic colorectal cancer.

Nikbakht H et al.

Scientific Reports, 2020

31953485 (PubMed )
Supplement: 41598_2020_57476_MOESM5_ESM.xlsx › All_non-silent_mutations
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