학술논문
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
Document Type
Article
Author
Wright, C.F.; Quaife, N.M.; Cook, S.A.; Barton, P.J.R.; Ramos-Hernández, L.; Lara-Pezzi, E.; Danecek, P.; Samocha, K.E.; Kaplanis, J.; Gardner, E.J.; Eberhardt, R.Y.; Gallone, G.; Firth, H.V.; Hurles, M.E.; Whiffin, N.; Ferla, M.P.; Taylor, J.C.; Chao, K.R.; Karczewski, K.J.; Morales, J.; Balasubramanian, M.; Banka, S.; Gompertz, L.; Kerr, B.; Kirby, A.; Lynch, S.A.; Morton, J.E.V.; Pinz, H.; Sansbury, F.H.; Stewart, H.; Zuccarelli, B.D.; Juusola, J.; Retterer, K.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 3 June 2021, 108(6):1083-1094)
Subject
Language
English
ISSN
15376605
00029297
00029297