Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.E4343K
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SACS

NM_014363.6:p.E4343K

Associated Papers

DNAJ Proteins in neurodegeneration: essential and protective factors.

Zarouchlioti C et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2018

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: an overview.

Bouhlal Y et al.

Parkinsonism & Related Disorders, 2011

Distinct phenotypes within autosomal recessive ataxias not linked to already known loci.

Bouhlal Y et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2005

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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."