Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.H3007Y
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SACS

NM_014363.6:p.H3007Y

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

Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.

Lu Q et al.

Annals of Translational Medicine, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."