Case report: functional characterization of a novel intronic variant in patients with charge syndrome

HIGHLIGHTS

  • who: CHD and collaborators from the Sapienza University of Rome, Italy have published the research work: Case report: Functional characterization of a novel intronic variant in patients with CHARGE syndrome, in the Journal: (JOURNAL)
  • what: The authors investigated a novel intronic variant, c.5607+17A>G, found in two unrelated patients and originally classified as a VUS.
  • future: The cause of such high variability seen in CHARGE syndrome is unknown it is most likely that differences in the individual genetic backgrounds are sufficient to modulate phenotypic expression but this remains an area for . . .

     

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