Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.L2974_Y2975insFs
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SACS

NM_014363.6:p.L2974_Y2975insFs

Associated Papers

Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Vogel AP et al.

Journal of Neurology, 2018

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

Synofzik M et al.

Orphanet Journal of Rare Diseases, 2013

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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."