Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.T3232delFs
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SACS

NM_014363.6:p.T3232delFs

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 homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.

Xiromerisiou G et al.

Journal of Molecular Neuroscience : Mn, 2020

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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."