Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.G2772A
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SACS

NM_014363.6:p.G2772A

Associated Papers

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

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.

Vural A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient.

Kurt S et al.

Journal of the Neurological Sciences, 2015

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