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Article

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

14 Apr 2022

Abstract excerpt

Introduction In the last few years, different studies highlighted a significant enrichment of NEK1 loss of function (LoF) variants in amyotrophic lateral sclerosis (ALS), and an additional role for the p.Arg261His missense variant in the disease susceptibility. Several other missense variants have been described so far, whose pathogenic relevance remains however unclear since many of them have been reported in...

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PMID: 35495032
DOI: 10.3389/fnins.2022.833051

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