Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

  • Fernando Jose Martinez
  • , Jeong Ho Lee
  • , Ji Eun Lee
  • , Sandra Blanco
  • , Elizabeth Nickerson
  • , Stacey Gabrie
  • , Michaela Frye
  • , Lihadh Al-Gazali
  • , Joseph G. Gleeson

Research output: Contribution to journal › Article › peer-review

207 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology