Wright, Caroline F., Quaife, Nicholas M., Ramos-Hernández, Laura, Danecek, Petr, Ferla, Matteo P., Samocha, Kaitlin E., Kaplanis, Joanna, Gardner, Eugene J., Eberhardt, Ruth Y., Chao, Katherine R., Karczewski, Konrad J., Morales, Joannella, Gallone, Giuseppe, Balasubramanian, Meena, Banka, Siddharth, Gompertz, Lianne, Kerr, Bronwyn, Kirby, Amelia, Lynch, Sally A., Morton, Jenny E.V., Pinz, Hailey, Sansbury, Francis H., Stewart, Helen, Zuccarelli, Britton D., Cook, Stuart A., Taylor, Jenny C., Juusola, Jane, Retterer, Kyle, Firth, Helen V., Hurles, Matthew E., Lara-Pezzi, Enrique, Barton, Paul J.R. and Whiffin, Nicola 2021. Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. American Journal of Human Genetics 108 (6) , pp. 1083-1094. 10.1016/j.ajhg.2021.04.025 |
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Official URL: http://dx.doi.org/10.1016/j.ajhg.2021.04.025
Item Type: | Article |
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Date Type: | Publication |
Status: | Published |
Schools: | Medicine |
Publisher: | Cell Press |
ISSN: | 0002-9297 |
Date of First Compliant Deposit: | 23 July 2021 |
Date of Acceptance: | 29 April 2021 |
Last Modified: | 06 Nov 2023 21:46 |
URI: | https://orca.cardiff.ac.uk/id/eprint/142799 |
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