De novo, heterozygous missense variants in YWHAG as a novel cause of developmental and epileptic encephalopathy

Kanani, F., Titheradge, H., Cooper, N. et al. (10 more authors) (2019) De novo, heterozygous missense variants in YWHAG as a novel cause of developmental and epileptic encephalopathy. In: European Journal of Human Genetics. 52nd European Society of Human Genetics (ESHG) Conference, 15-18 Jun 2019, Gothenburg, Sweden. Springer Nature , pp. 1471-1472.

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Authors/Creators:
Copyright, Publisher and Additional Information: © European Society of Human Genetics 2019.
Dates:
  • Published (online): 10 October 2019
  • Published: October 2019
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Human Metabolism (Sheffield)
The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Oncology (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 22 May 2020 15:36
Last Modified: 22 May 2020 15:39
Status: Published
Publisher: Springer Nature
Refereed: Yes
Identification Number: https://doi.org/10.1038/s41431-019-0494-2
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