Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.P3095insFs
Back to variants list

SACS

NM_014363.6:p.P3095insFs

Associated Papers

In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Louit A et al.

Stem Cells International, 2023

37096129 (PubMed )
Supplement: 1496597.f1.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

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

Gauquelin L et al.

Movement Disorders Clinical Practice, 2020

Novel SACS Mutation Deviates from the French Canadian ARSACS Phenotype.

McKenzie ED et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2014

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."