Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.L3773_R3774del1
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SACS

NM_014363.6:p.L3773_R3774del1

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

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 Novel SACS Variant Identified in a Chinese Patient: Case Report and Review of the Literature.

Chen Y et al.

Frontiers in Neurology, 2022

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.

Cheng HL et al.

Translational Neurodegeneration, 2021

Optical Coherence Tomography Findings Facilitate the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Cho H et al.

Korean Journal of Ophthalmology : Kjo, 2021

Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Criscuolo C et al.

Journal of Neurology, 2015

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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."