Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.F3633V
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SACS

NM_014363.6:p.F3633V

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

Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity.

Pi BK et al.

International Journal of Molecular Sciences, 2024

38928084 (PubMed )
Supplement: ijms-25-06378-s001.zip › ijms-3037742-supplementary.pdf
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