Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.K234fs
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SACS

NM_014363.6:p.K234fs

Associated Papers

Autosomal recessive spinocerebellar ataxias in Japan.

Tanaka F et al.

Rinsho Shinkeigaku = Clinical Neurology, 2016

Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Criscuolo C et al.

Journal of Neurology, 2015

[Clinical features of autosomal dominant spinocerebellar ataxias genetically unclassified into any known triplet-repeat diseases].

Aoki K et al.

Rinsho Shinkeigaku = Clinical Neurology, 2001

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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."