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:	Kanani, F. Titheradge, H. Cooper, N. Elmslie, F. Lees, M. Juusola, J. Pisani, L. Mignot, C. Valence, S. Keren, B. Guella, I. Study, D.D.D. Balasubramanian, M. https://orcid.org/0000-0003-1488-3695
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
Related URLs:	Author

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

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