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

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Submitted on : Tuesday, November 5, 2019 - 5:08:15 PM
Last modification on : Friday, November 15, 2019 - 10:10:47 AM

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Farrah El-Saafin, Cynthia Curry, Tao Ye, Jean-Marie Garnier, Isabelle Kolb-Cheynel, et al.. Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription. Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (12), pp.2171-2186. ⟨10.1093/hmg/ddy126⟩. ⟨hal-02349579⟩

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