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The Newcastle University research output collection, currently available on ePrints, will shortly be moving to a new open repository platform, Figshare. To prepare for the data migration we have paused adding new content to ePrints, and will resume once the new repository is launched. During this time you will continue to have access to ePrints (but no new content will appear). We will share updates here when available.

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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Publication metadata

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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