Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.T620insFs
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SACS

NM_014363.6:p.T620insFs

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

A novel SACS gene mutation in a Tunisian family.

Bouhlal Y et al.

Journal of Molecular Neuroscience : Mn, 2009

A novel mutation in SACS gene in a family from southern Italy.

Criscuolo C et al.

Neurology, 2004

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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."