De novo missense substitutions in the gene encoding CDK8, a regulator of the Mediator complex, cause a syndromic developmental disorder

The Mediator is an evolutionarily conserved, multi-subunit complex that regulates multiple steps of transcription. Mediator activity is regulated by the reversible association of a four-subunit module comprising CDK8 or CDK19 kinases, together with cyclin C, MED12 or MED12L, and MED13 or MED13L. Mut...

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Bibliographic Details
Main Authors:	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
Format:	Journal article
Published:	Cell Press 2019

De novo missense substitutions in the gene encoding CDK8, a regulator of the Mediator complex, cause a syndromic developmental disorder

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