Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.Y3430*
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SACS

NM_014363.6:p.Y3430*

Associated Papers

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Pilliod J et al.

Annals of Neurology, 2015

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Romano A et al.

Human Mutation, 2013

Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays.

H'mida-Ben Brahim D et al.

Journal of Neurology, 2011

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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."