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

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https://hal.archives-ouvertes.fr/hal-02349579
Contributor : Laszlo Tora Connect in order to contact the contributor
Submitted on : Tuesday, November 5, 2019 - 5:08:15 PM
Last modification on : Tuesday, January 25, 2022 - 12:08:03 PM

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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, 2018, 27 (12), pp.2171-2186. ⟨10.1093/hmg/ddy126⟩. ⟨hal-02349579⟩

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