Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.A4469P
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SACS

NM_014363.6:p.A4469P

Associated Papers

Cerebellum and neuropsychiatric disorders: insights from ARSACS.

Mignarri A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2014

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

Romano A et al.

Human Mutation, 2013

New findings in the ataxia of Charlevoix-Saguenay.

Gazulla J et al.

Journal of Neurology, 2012

Is the ataxia of Charlevoix-Saguenay a developmental disease?

Gazulla J et al.

Medical Hypotheses, 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."