CDK13, cyclin dependent kinase 13, 8621

N. diseases: 141; N. variants: 8
Disease: Overfolding of the superior helices ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865304
Disease: Overfolding of the superior helices
Overfolding of the superior helices 		0.100 GeneticVariation phenotype CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017