• Media type: E-Article
  • Title: De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy
  • Contributor: Tran Mau-Them, F.; Guibaud, L.; Duplomb, L.; Keren, B.; Lindstrom, K.; Marey, I.; Mochel, F.; van den Boogaard, M.J.; Oegema, R.; Nava, C.; Masurel, A.; Jouan, T.; Jansen, F.E.; Au, M.; Chen, Agnes H.; Cho, M.; Duffourd, Y.; Lozier, E.; Konovalov, F.; Sharkov, A.; Korostelev, S.; Urteaga, B.; Dickson, P.; Vera, M.; [...]
  • imprint: Elsevier BV, 2019
  • Published in: Genetics in Medicine
  • Language: English
  • DOI: 10.1038/s41436-018-0143-0
  • ISSN: 1098-3600
  • Origination:
  • Footnote:
  • Access State: Open Access