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Congenital myopathy due to pathogenic missense variant in the MYBPC1 gene.

Vinaya BhandariRaymond H KimHanna FaghfouryJosh SilverRaymond H ChanQiliang DingMarci Lb SchwartzVera Bril
Published in: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques (2023)
Keyphrases
  • hypertrophic cardiomyopathy
  • late onset
  • intellectual disability
  • copy number
  • genome wide
  • genome wide identification
  • heart failure
  • gene expression
  • early onset
  • transcription factor
  • genome wide analysis