Varaico: Literature-Extracted Genetic Variants

Gene:ABCG8
Variant:p.L501P
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ABCG8

NM_022437.3:p.L501P

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: Twenty Years of Discovery of the Function of ABCG5ABCG8.

Williams K et al.

International Journal of Molecular Sciences, 2021

ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion.

Zein AA et al.

Biochemical Society Transactions, 2019

Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.

Wang LL et al.

Basic & Clinical Pharmacology & Toxicology, 2011

ABCG5/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols.

Lamiquiz-Moneo I 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."