Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.R550*
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NEK1

NM_001199397.3:p.R550*

Associated Papers

A novel frameshift mutation in the NEK1 gene causing amyotrophic lateral sclerosis: A case report and literature review.

Yang D et al.

Neurogenetics, 2025

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_6_P_LP

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

NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients.

Nguyen HP et al.

Neurobiology of Aging, 2018

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Kenna KP et al.

Nature Genetics, 2016

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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."