Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.K1717insFs
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SACS

NM_014363.6:p.K1717insFs

Associated Papers

Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.

Amprosi M et al.

Journal of Neurology, 2026

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

Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS.

Nethisinghe S et al.

International Journal of Molecular Sciences, 2021

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.

Gauquelin L et al.

Movement Disorders Clinical Practice, 2020

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Parkinson MH et al.

Brain : a Journal of Neurology, 2018

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.

Burguêz D et al.

Arquivos De Neuro-psiquiatria, 2017

Exome sequencing as a diagnostic tool for pediatric-onset ataxia.

Sawyer SL et al.

Human Mutation, 2014

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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."