Varaico: Literature-Extracted Genetic Variants

Gene:CFAP410
Variant:p.R60W
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CFAP410

NM_004928.3:p.R60W

Associated Papers

C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis.

De Decker M et al.

Brain : a Journal of Neurology, 2025

ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons.

Zelina P et al.

Acta Neuropathologica Communications, 2024

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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."