Varaico: Literature-Extracted Genetic Variants

Gene:ABCG8
Variant:p.M429L
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ABCG8

NM_022437.3:p.M429L

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

Acute Coronary Syndrome Developed in a 17-year-old Boy with Sitosterolemia Comorbid with Takayasu Arteritis: A Rare Case Report and Review of the Literature.

Iyama K et al.

Internal Medicine (tokyo, Japan), 2022

Recent advances in ABCG5 and ABCG8 variants.

Fong V et al.

Current Opinion in Lipidology, 2021

Genomics of familial hypercholesterolaemia.

Alves AC et al.

Current Opinion in Lipidology, 2019

First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes.

Tada H 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."