Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.F3027fs
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SACS

NM_014363.6:p.F3027fs

Associated Papers

Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound.

Kneer K et al.

Journal of Neurology, 2024

Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Vogel AP et al.

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."