Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.E1974*
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SACS

NM_014363.6:p.E1974*

Associated Papers

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Pilliod J et al.

Annals of Neurology, 2015

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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."