Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.I2949fs
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SACS

NM_014363.6:p.I2949fs

Associated Papers

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Masquerading as Charcot-Marie-Tooth Disease: A Case Study and Literature Review of Korean Patients.

Kim Y et al.

Journal of Movement Disorders, 2025

38977326 (PubMed )
Supplement: jmd-24054-Supplementary-Table-2.pdf

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.

Aida I et al.

Internal Medicine (tokyo, Japan), 2021

Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec.

Haj Salem I et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2021

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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."