Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.R2119*
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SACS

NM_014363.6:p.R2119*

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

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Pilliod J et al.

Annals of Neurology, 2015

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.

Hamza W et al.

Bmc Medical Genetics, 2015

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Romano A et al.

Human Mutation, 2013

Sacsin-related ataxia with neither retinal hypermyelination nor spasticity.

Hara K et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2007

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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."