The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function

Martina Proietti Onori, B (Belwina) Koopal, DB Everman, JD Worthington, JR Jones, MA (Melissa) Ploeg, Edwin Mientjes, BW van Bon, T Kleefstra, H Schulman, Steven Kushner, S Kury, Ype Elgersma, Geeske van Woerden

Research output: Contribution to journalArticleAcademicpeer-review

23 Citations (Scopus)
74 Downloads (Pure)
Original languageEnglish
Pages (from-to)2008-2024
Number of pages17
JournalHuman Mutation
Issue number12
Publication statusPublished - 2018

Research programs

  • EMC ONWAR-01-58-02

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