Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.S3892*
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SACS

NM_014363.6:p.S3892*

Associated Papers

Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS.

Nethisinghe S et al.

International Journal of Molecular Sciences, 2021

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Parkinson MH et al.

Brain : a Journal of Neurology, 2018

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.

Duncan EJ et al.

Human Molecular Genetics, 2017

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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."