Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.S2711L
Back to variants list

SACS

NM_014363.6:p.S2711L

Associated Papers

Journey Through Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: Insights From a Case Series of Seven Patients-A Single-Center Study and Review of an Indian Cohort.

Raval MA et al.

Journal of Movement Disorders, 2024

39198013 (PubMed )
Supplement: jmd-24154-Supplementary-Table-2.pdf

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 Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.

Yu AC et al.

Frontiers in Neuroscience, 2019

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Case Report of a Novel Nonsense Mutation in the SACS Gene.

Agarwal A et al.

Annals of Indian Academy of Neurology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."