Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.M3942fs
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SACS

NM_014363.6:p.M3942fs

Associated Papers

Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Liu H et al.

Bmc Medical Genomics, 2025

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 Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American.

Dougherty SC et al.

Frontiers in 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."