Varaico: Literature-Extracted Genetic Variants

Gene:ABCG8
Variant:p.Q302*
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ABCG8

NM_022437.3:p.Q302*

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

A systematic review of ABCG8 mutation and sitosterolemia.

Parekh D et al.

American Journal of Blood Research, 2025

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.

Papaemmanuil E et al.

The New England Journal of Medicine, 2011

Sitosterolemia: a new mutation in a Mediterranean patient.

Melenotte C et al.

Journal of Clinical Lipidology, 0

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