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Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities.

Emily BreretonEmily FassiGabriel C AraujoJonathan DoddAida TelegrafiSheel J PathakMarwan S Shinawi
Published in: Molecular genetics & genomic medicine (2018)
Our data suggest a previously undescribed milder phenotype associated with a missense genetic variant in the PH domain of dynamin 1.
Keyphrases
  • electronic health record
  • genome wide
  • intellectual disability
  • big data
  • copy number
  • machine learning
  • gene expression
  • dna methylation
  • data analysis