Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.
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DOI: 10.1093/hmg/ddab015
Abstract: In the last few years, NEK1 has been identified as a new gene related to amyotrophic lateral sclerosis (ALS). Loss-of-function variants have been mostly described, although several missense variants exist, which pathogenic relevance remains to… read more here.
Keywords: missense variants; role nek1; variants als; missense ... See more keywords