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Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.

Ann-Charlotte ThuressonCecilia Soussi ZanderJin J ZhaoJonatan HalvardsonKhurram MaqboolElse MånssonEric StenningerUlrika HolmlundYlva ÖhrnerLars Feuk
Published in: Clinical genetics (2018)
Keyphrases
  • intellectual disability
  • autism spectrum disorder
  • copy number