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De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders

Lookup NU author(s): Professor Joris VeltmanORCiD

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Author(s): Wiel L, Hampstead JE, Venselaar H, Vissers LELM, Brunner HG, Pfundt R, Vriend G, Veltman JA, Gilissen C

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2023

Volume: 110

Issue: 1

Pages: 92-104

Print publication date: 05/01/2023

Online publication date: 22/12/2022

Acceptance date: 02/12/2022

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: https://doi.org/10.1016/j.ajhg.2022.12.001

DOI: 10.1016/j.ajhg.2022.12.001

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