Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.P536L
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SACS

NM_014363.6:p.P536L

Associated Papers

Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.

Longo F et al.

Neurology, 2021

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

Romano A et al.

Human Mutation, 2013

[Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature].

Anheim M et al.

Revue Neurologique, 2008

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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."