Varaico: Literature-Extracted Genetic Variants

Gene:IGFALS
Variant:p.V58L
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IGFALS

NM_004970.3:p.V58L

Associated Papers

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

An Amyotrophic Lateral Sclerosis-Associated Mutant of C21ORF2 Is Stabilized by NEK1-Mediated Hyperphosphorylation and the Inability to Bind FBXO3.

Watanabe Y et al.

Iscience, 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."