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Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

Abstract : Mediator is a multiprotein complex that allows the transfer of genetic information from DNA binding proteins to the RNA polymerase II during transcription initiation. MED12L is a subunit of the kinase module, which is one of the four subcomplexes of the mediator complex. Other subunits of the kinase module have been already implicated in intellectual disability, namely MED12, MED13L, MED13, and CDK19.
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https://hal-normandie-univ.archives-ouvertes.fr/hal-02268425
Contributor : Marion Gerard <>
Submitted on : Tuesday, August 20, 2019 - 9:59:15 PM
Last modification on : Thursday, April 23, 2020 - 2:26:27 PM

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Mathilde Nizon, Vincent Laugel, Kevin M. Flanigan, Matthew Pastore, Megan A. Waldrop, et al.. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genetics in Medicine, Nature Publishing Group, 2019, ⟨10.1038/s41436-019-0557-3⟩. ⟨hal-02268425⟩

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