Publication | Open Access

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

Neurodevelopmental DisordersDevelopmental BiologyGeneticsNeuroscienceCommon C-terminal ExtensionSevere FormAbnormal DevelopmentMolecular NeurobiologyMedicineSocial SciencesNeurogenetics