Varaico: Literature-Extracted Genetic Variants

Gene:ABCG8
Variant:p.L650R
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ABCG8

NM_022437.3:p.L650R

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

Potential effects of NPC1L1 polymorphisms in protecting against clinical disease in a chinese family with sitosterolaemia.

Hu M et al.

Journal of Atherosclerosis and Thrombosis, 2014

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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."