Varaico: Literature-Extracted Genetic Variants

Gene:ABCG5
Variant:p.Q459*
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ABCG5

NM_022436.3:p.Q459*

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

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

Kaya Z et al.

Journal of Clinical Lipidology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."