Varaico: Literature-Extracted Genetic Variants

Gene:C9orf72
Variant:p.S23A
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C9orf72

NM_018325.5:p.S23A

Associated Papers

The Effect of Dipeptide Repeat Proteins on FUS/TDP43-RNA Condensation in C9orf72 ALS/FTD.

Driver MD et al.

The Journal of Physical Chemistry. B, 2024

G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD.

Coyne AN et al.

Neuron, 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."