Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.L2686_F2690del5
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SACS

NM_014363.6:p.L2686_F2690del5

Associated Papers

A Novel Homozygous Frameshift Variant of SACS Gene in the Turkish Siblings With Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).

Cokyaman T et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025

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