Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.D3269N
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SACS

NM_014363.6:p.D3269N

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

Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder.

Blumkin L et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015

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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."