Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.E382_S383del2
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SACS

NM_014363.6:p.E382_S383del2

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

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) in a Thai Patient: The Classic Clinical Manifestations, Funduscopic Feature, and Brain Imaging Findings with a Novel Mutation in the SACS Gene.

Srikajon J et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2020

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