Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.K2439_K2440del2
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SACS

NM_014363.6:p.K2439_K2440del2

Associated Papers

Frameshift and Copy Number Variants in SACS-Related Neuropathy.

Yuan JH et al.

Neurology. Genetics, 2025

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

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
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