Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.C360insFs
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SACS

NM_014363.6:p.C360insFs

Associated Papers

A novel SACS gene mutation in a Tunisian family.

Bouhlal Y et al.

Journal of Molecular Neuroscience : Mn, 2009

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Takiyama Y

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2006

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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."