Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.V1030fs
Back to variants list

NEK1

NM_001199397.3:p.V1030fs

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

Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.

Lattante S et al.

Human Molecular Genetics, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."