Varaico: Literature-Extracted Genetic Variants

Gene:ABCG8
Variant:p.I419N
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ABCG8

NM_022437.3:p.I419N

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

Little Evidence of Atherosclerosis in a Middle-Aged Japanese Woman with Familial Hypercholesterolemia Carrying PCSK9 (p.Glu32Lys) and ABCG8 (p.Ile419Asn) Variants Despite Elevated Lipoprotein(a) Levels.

Aono K et al.

Internal Medicine (tokyo, Japan), 2025

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

Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.

Nagahara K et al.

Journal of Atherosclerosis and Thrombosis, 2022

Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene.

Tada H et al.

Lipids in Health and Disease, 2020

Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia.

Hashimoto N et al.

Human Genome Variation, 2020

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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."