Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.E778*
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NEK1

NM_001199397.3:p.E778*

Associated Papers

NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral Sclerosis.

Riva N et al.

Frontiers in Neuroscience, 2022

35495032 (PubMed )
Supplement: Data_Sheet_1.docx

Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population.

Naruse H et al.

Journal of Human Genetics, 2021

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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."