De novo CSDE1 missense variant T595N regulates miRNA expression in a patient with a complex neurodevelopmental condition

Affiliations

• ¹ Department of Biochemistry, Memorial University of Newfoundland, 45 Arctic Avenue, St. John's, NL, A1C 5S7, Canada.
• ² Department of Medical Genetics, Oslo University Hospital and University of Oslo, Kirkeveien 166, 0450, Oslo, Norway.
• ³ Division of Pediatric and Adolescent Medicine, Oslo University Hospital and University of Oslo, 0450, Oslo, Norway.
• ⁴ Department of Biochemistry, Memorial University of Newfoundland, 45 Arctic Avenue, St. John's, NL, A1C 5S7, Canada. Electronic address: pavan.kakumani@mun.ca.