Varaico: Literature-Extracted Genetic Variants

Gene:C9orf72
Variant:p.T3I
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C9orf72

NM_018325.5:p.T3I

Associated Papers

Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity.

Bennett CL et al.

Acta Neuropathologica Communications, 2023

[A case of motor and sensory polyneuropathy and respiratory failure with novel heterozygous mutation of the senataxin gene].

Kitao R et al.

Rinsho Shinkeigaku = Clinical Neurology, 2020

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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."