Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.N2983S
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SACS

NM_014363.6:p.N2983S

Associated Papers

A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient.

Liu L et al.

Journal of the Neurological Sciences, 2016

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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."