Varaico: Literature-Extracted Genetic Variants

Gene:ABCG5
Variant:p.G588Splc
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ABCG5

NM_022436.3:p.G588Splc

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

Post-prandial Remnant Lipoprotein Metabolism in Sitosterolemia.

Tada H et al.

Journal of Atherosclerosis and Thrombosis, 2018

Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.

Bastida JM et al.

Journal of Thrombosis and Haemostasis : Jth, 2017

A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing.

Tada H et al.

Journal of Atherosclerosis and Thrombosis, 2016

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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."