Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.S3897_D3898insFs
Back to variants list

SACS

NM_014363.6:p.S3897_D3898insFs

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

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)-First Report of Clinical and Imaging Features from India, and a Novel SACS Gene Duplication.

Agarwal PA et al.

Movement Disorders Clinical Practice, 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."