Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.Y1940_T1941delFs
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SACS

NM_014363.6:p.Y1940_T1941delFs

Associated Papers

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Parkinson MH et al.

Brain : a Journal of Neurology, 2018

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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."