Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.D2771fs
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SACS

NM_014363.6:p.D2771fs

Associated Papers

Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Liu H et al.

Bmc Medical Genomics, 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."