Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.F257C
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NEK1

NM_001199397.3:p.F257C

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

Hand-onset weakness is a common feature of ALS patients with a NEK1 loss-of-function variant.

Tsai YS et al.

Annals of Clinical and Translational Neurology, 2020

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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."