Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.P2948fs
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SACS

NM_014363.6:p.P2948fs

Associated Papers

Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature.

Al-Ajmi A et al.

World Journal of Clinical Cases, 2020

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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."