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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STON1

Variant:p.E411K

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STON1

NM_006873.4:p.E411K

hg38:chr2:48581864 G>A

Associated Papers

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.

Barbier M et al.

Annals of Neurology, 2022

35411967 (PubMed )

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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."