Varaico: Literature-Extracted Genetic Variants

Gene:STUB1
Variant:p.Y252S
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STUB1

NM_005861.4:p.Y252S

Associated Papers

Clinical and functional characterization of a novel STUB1 mutation in a Chinese spinocerebellar ataxia 48 pedigree.

Li J et al.

Orphanet Journal of Rare Diseases, 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."