De novo mutations in HNRNPU result in a neurodevelopmental syndrome

Yates, T.M., Vasudevan, P.C., Chandler, K.E. et al. (5 more authors) (2017) De novo mutations in HNRNPU result in a neurodevelopmental syndrome. American Journal of Medical Genetics Part A, 173 (11). pp. 3003-3012. ISSN 1552-4825

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Copyright, Publisher and Additional Information: © 2017 Wiley Periodicals, Inc. This is an author produced version of a paper subsequently published in American Journal of Medical Genetics Part A. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: Aggressive outbursts; behavior; HNRNPU; intellectual disability; seizures; trio exome sequencing
Dates:
  • Published: November 2017
  • Published (online): 25 September 2017
  • Accepted: 5 September 2017
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 16 Nov 2017 12:30
Last Modified: 25 Sep 2018 00:38
Published Version: https://doi.org/10.1002/ajmg.a.38492
Status: Published
Publisher: Wiley
Refereed: Yes
Identification Number: https://doi.org/10.1002/ajmg.a.38492

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