Varaico: Literature-Extracted Genetic Variants

Gene:SNX14
Variant:p.Q915L
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SNX14

NM_153816.6:p.Q915L

Associated Papers

Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20.

Shao Y et al.

Frontiers in Genetics, 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."