Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.L3135S
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SACS

NM_014363.6:p.L3135S

Associated Papers

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Half-Siblings.

Yeow D et al.

Annals of Clinical and Translational Neurology, 2025

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Parkinson MH et al.

Brain : a 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."