Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.P2201P
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SACS

NM_014363.6:p.P2201P

Associated Papers

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.

Engert JC et al.

Nature Genetics, 2000

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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."