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

Yu-Shuen TsaiKon-Ping LinKang-Yang JihPei-Chien TsaiYi-Chu LiaoYi-Chung Lee
Published in: Annals of clinical and translational neurology (2020)
Our study supports the pathogenic role of NEK1 LOF variants and demonstrates their spectrum and clinical features in a Taiwanese cohort with ALS.
Keyphrases
  • amyotrophic lateral sclerosis
  • machine learning
  • copy number
  • deep learning
  • dna methylation
  • genome wide
  • neural network