Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.E1898*
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SACS

NM_014363.6:p.E1898*

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

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

Chen Y et al.

Frontiers in Neurology, 2022

Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.

Wang Z et al.

Neuroscience Letters, 2021

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