Varaico: Literature-Extracted Genetic Variants

Gene:ABCG5
Variant:p.C600*
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ABCG5

NM_022436.3:p.C600*

Associated Papers

Sitosterolemia With Two Heterozygous Variants Including a Novel Mutation c.1800T>A in the ABCG5 Gene: A Case Report of a Rare Condition in a Young Saudi Girl.

Alquraishi AS et al.

Cureus, 2024

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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."