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Severe congenital myasthenic syndrome with novel variants in the CHRND gene.

Hidehito KondoYukiko TsujiTomoko LeeYoshihiko SaitoIchizo Nishino
Published in: Pediatrics international : official journal of the Japan Pediatric Society (2022)
Keyphrases
  • copy number
  • genome wide
  • early onset
  • case report
  • genome wide identification
  • dna methylation
  • gene expression
  • drug induced