Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.N745K
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NEK1

NM_001199397.3:p.N745K

Associated Papers

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

Riva N et al.

Frontiers in Neuroscience, 2022

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.

Shepheard SR et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2021

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Potulska-Chromik A et al.

Journal of Clinical Medicine, 2021

33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering

ALS Genes in the Genomic Era and their Implications for FTD.

Nguyen HP et al.

Trends in Genetics : Tig, 2018

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

Nguyen HP et al.

Neurobiology of Aging, 2018

Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.

Black HA et al.

Neurobiology of Aging, 2017

NEK1 mutations in familial amyotrophic lateral sclerosis.

Brenner D et al.

Brain : a Journal of Neurology, 2016

Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer.

Smith AL et al.

Cancer Letters, 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."