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New missense variants of NDUFA11 associated with late-onset myopathy.

Lorenzo PeverelliAndrea LegatiEleonora LamanteaAlessia NascaAlberto LerarioValentina GalimbertiDaniele GhezziCostanza Lamperti
Published in: Muscle & nerve (2019)
Keyphrases
  • late onset
  • early onset
  • copy number
  • intellectual disability
  • autism spectrum disorder
  • gene expression
  • dna methylation
  • genome wide