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De novo missense substitutions in the gene encoding CDK8, a regulator of the Mediator complex, cause a syndromic developmental disorder by Calpena, E, Hervieu, A, Kaserer, T, Swagemakers, SMA, Goos, JAC, Popoola, O, Ruiz, MJ, Dieber, T, Bownass, L, Brilstra, EH, Brimble, E, Foulds, N, Grebe, TA, Harder, AVE, Lees, MM, Monaghan, KG, Newbury-Ecob, RA, Ong, K-R, Osio, D, Santos, FJ, Ruzhnikov, MRZ, Telegrafi, A, van Binsbergen, E, van Dooren, MF, Deciphering Developmental Disorders Study, van der Spek, PJ, Twigg, SRF, Mathijssen, IMJ, Clarke, PA, Wilkie, A
Published 2019Journal article