Varaico: Literature-Extracted Genetic Variants

Gene:RSAD2
Variant:p.G192V
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RSAD2

NM_080657.5:p.G192V

Associated Papers

A novel cryptic splice donor due to synonymous variant in VPS13A as an underlying cause of a chorea-acanthocytosis in a large family.

Alluqmani M et al.

Heliyon, 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."