Varaico: Literature-Extracted Genetic Variants

Gene:ABCG5
Variant:p.W54*
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ABCG5

NM_022436.3:p.W54*

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

Sitosterolemia with Compound Heterozygous Variants in the ABCG5 Gene: A Rare Cause of Non-Immune Hemolysis and Macrothrombocytopenia

Bostankolu Değirmenci B et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2025

ATP-binding cassette transporter G8 M429V polymorphism as a novel genetic marker of higher cholesterol absorption in hypercholesterolaemic Japanese subjects.

Miwa K et al.

Clinical Science (london, England : 1979), 2005

Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients.

Kaya Z et al.

Journal of Clinical Lipidology, 0

Isolated thrombocytopenia as an atypical presentation of sitosterolemia in a school-aged child.

Uzunyayla G et al.

Journal of Clinical Lipidology, 0

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