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Paper Details

Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
22
2019
CDK19, MED12, MED12L, MED12L haploinsufficiency, MED13, MED13L, PURPOSE Mediator, RNA, RNA polymerase II, autism spectrum disorder, corpus callosum abnormality, developmental delay, facial morphological features, intellectual disability, mediator complex, mediator kinase module, single, speech impairment, splicing variants, transcriptional defect
Author NameAffiliation
Matthew PastoreNationwide Children's Hospital
Megan T ChoClinical Genomics GeneDx
Susan M HiattHudsonAlpha Institute for Biotechnology
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