De novo truncating variants in the intronless IRF2BPL gene are responsible for developmental epileptic encephalopathy

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TitreDe novo truncating variants in the intronless IRF2BPL gene are responsible for developmental epileptic encephalopathy
Type de publicationJournal Article
Year of Publication2019
AuteursF. Mau-Them T, Vitobello A., Guibaud L., Duplomb L., Keren B., Lindstrom K., Marey I., Mochel F., van den Boogaard M., Oegema R., Nava C., Masurel A., Jouan T., Jansen F., Au M., Chen A., Cho M., Duffourd Y., Dickson P., Moin V., Begemann A., Zweier M., Zieba B., Schmitt-Mechelke T., Van Gassen K., Nelson S., Graham J., Friedman J., Faivre L., Ebstein F., Lin H., C. Robinet T
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume27
Pagination220-221
Date PublishedJUL
Type of ArticleMeeting Abstract
ISSN1018-4813