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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SACS

Variant:p.M3551_L3552del0

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SACS

NM_014363.6:p.M3551_L3552del0

hg38:chr13:23333219 GAAGCAT>G

Associated Papers

Retinal and pontine striations: neurodiagnostic signs of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Leavitt JA et al.

Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2014

25237835 (PubMed )

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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."