Varaico: Literature-Extracted Genetic Variants

Gene:ABCG5
Variant:p.V113insFs
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ABCG5

NM_022436.3:p.V113insFs

Associated Papers

A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.

Okada T et al.

Journal of Atherosclerosis and Thrombosis, 2026

Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia.

Heimerl S et al.

Human Mutation, 2002

Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.

Hubacek JA et al.

Human Mutation, 2001

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