Varaico: Literature-Extracted Genetic Variants

Gene:ABCG8
Variant:p.I510del1
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ABCG8

NM_022437.3:p.I510del1

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

Features of chinese patients with sitosterolemia.

Zhou Z et al.

Lipids in Health and Disease, 2022

[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia].

Fang D et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2018

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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."