Varaico: Literature-Extracted Genetic Variants

Gene:ABCG5
Variant:p.P431L
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ABCG5

NM_022436.3:p.P431L

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

Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing.

Atava I et al.

International Journal of Molecular Sciences, 2024

Putative Pathogenic Variants of ABCG5 and ABCG8 of Sitosterolemia in Patients With Hyper-Low-Density Lipoprotein Cholesterolemia.

Kojima N et al.

Journal of Lipid and Atherosclerosis, 2024

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