Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.N232Y
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SACS

NM_014363.6:p.N232Y

Associated Papers

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

Romano A et al.

Human Mutation, 2013

23280630 (PubMed )
Supplement: humu0034-0525-SD1.pdf

Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.

Fogel BL et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2012

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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."