Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity
Isabel Domínguez, J. M. Cruz-Gamero, Victor Corasolla, Nicolas Dacher, Sampathkumar Rangasamy, Andrea Urbani, Vinodh Narayanan, Heike Rebholz
Topics & Concepts
Missense mutationBiologyHypotoniaPhenotypeNeurodevelopmental disorderGeneticsHuman geneticsKinaseMutationMutantProtein kinase AGeneGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersBiochemical and Molecular Research