Reanalysis of trio whole exome sequencing (WES) data with a novel variant prioritization workflow reveals a de-novo missense variant in EBF3 gene associated with hypotonia and developmental delay

BOZKURT YOZGATLI T., Bakır Güngör B., Doğan M., Gümüş H., SEZERMAN O. U., DÜNDAR M.

V. International Erciyes Medical Genetics Days Congress, Nevşehir, Turkey, 20 February 2020, (Summary Text)

  • Publication Type: Conference Paper / Summary Text
  • City: Nevşehir
  • Country: Turkey
  • Acibadem Mehmet Ali Aydinlar University Affiliated: Yes