Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.A320E
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NEK1

NM_001199397.3:p.A320E

Associated Papers

Neuronal STING activation in amyotrophic lateral sclerosis and frontotemporal dementia.

Marques C et al.

Acta Neuropathologica, 2024

38478117 (PubMed )
Supplement: 401_2024_2688_MOESM1_ESM.pdf

Loss of function of the ALS-associated NEK1 kinase disrupts microtubule homeostasis and nuclear import.

Mann JR et al.

Science Advances, 2023

37585529 (PubMed )
Supplement: sciadv.adi5548_sm.pdf
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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."