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Further evidence for distinct traits associated with RBM10 missense variants.

Cathryn PoultonGareth BaynamKye PughMichael MasonCatherine Kiraly-BorriDylan GrationLauren DreyerLeon VitiMark AgostinoJulian Ik-Tsen Heng
Published in: Clinical genetics (2022)
A case of a missense RBM10 variant in an adult with mild to moderate intellectual disability.
Keyphrases
  • intellectual disability
  • autism spectrum disorder
  • copy number
  • genome wide
  • dna methylation