Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.F3562_F3563delFs
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SACS

NM_014363.6:p.F3562_F3563delFs

Associated Papers

Journey Through Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: Insights From a Case Series of Seven Patients-A Single-Center Study and Review of an Indian Cohort.

Raval MA et al.

Journal of Movement Disorders, 2024

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

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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."