Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.A3096fs
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SACS

NM_014363.6:p.A3096fs

Associated Papers

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.

Bagaria J et al.

International Journal of Molecular Sciences, 2022

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.

Gauquelin L et al.

Movement Disorders Clinical Practice, 2020

Exome sequencing as a diagnostic tool for pediatric-onset ataxia.

Sawyer SL et al.

Human Mutation, 2014

Novel SACS Mutation Deviates from the French Canadian ARSACS Phenotype.

McKenzie ED et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2014

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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."