Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.Y4143delFs
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SACS

NM_014363.6:p.Y4143delFs

Associated Papers

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay with Early-Onset Epilepsy and Novel Clinical Features: A rare entity from Morocco in the Middle East and North Africa region.

Laaraje A et al.

Sultan Qaboos University Medical Journal, 2025

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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."