Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription

Farrah El-Saafin, Cynthia Curry, Tao Ye, Jean Marie Garnier, Isabelle Kolb-Cheynel, Matthieu Stierle, Natalie L. Downer, Mathew P. Dixon, Luc Negroni, Imre Berger, Tim Thomas, Anne K. Voss, William Dobyns, Didier Devys, Laszlo Tora

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Immunology and Microbiology

Biochemistry, Genetics and Molecular Biology