Varaico: Literature-Extracted Genetic Variants

Gene:ABCG5
Variant:p.S48Splc
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ABCG5

NM_022436.3:p.S48Splc

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

Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review.

Huang D et al.

Medicine, 2019

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

Two novel mutations in the ABCG5 gene, c.144 -1G>A and c.1523 delC, in a Mexican family with sitosterolemia.

Colima Fausto AG 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."