Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.C2869delFs
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SACS

NM_014363.6:p.C2869delFs

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

Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

Angural A et al.

Frontiers in Genetics, 2020

ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India.

Kuchay RAH et al.

Cerebellum (london, England), 2019

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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."