Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.E853fs
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NEK1

NM_001199397.3:p.E853fs

Associated Papers

Mutations in NEK1 cause ciliary dysfunction as a novel pathogenic mechanism in amyotrophic lateral sclerosis.

Noh MY et al.

Molecular Neurodegeneration, 2025

Emerging roles of primary cilia in the pathogenesis of amyotrophic lateral sclerosis.

Takahashi H et al.

Frontiers in Neuroscience, 2025

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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."