Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.A2181delFs
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SACS

NM_014363.6:p.A2181delFs

Associated Papers

ARSACS: Clinical Features, Pathophysiology and iPS-Derived Models.

Salem IH et al.

Cerebellum (london, England), 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 novel SACS gene mutation in a Tunisian family.

Bouhlal Y et al.

Journal of Molecular Neuroscience : Mn, 2009

Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan.

Hara K et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2005

SACS Gene Deletional Mutation Presenting as an Isolated Nonprogressive Sensory Motor Axonal Neuropathy: A Case Report.

Agarwal V et al.

Annals of Indian Academy of Neurology, 0

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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."