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Homozygous TAF8 mutation in a patient with intellectual...

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  • 2018 / 04
  • Homozygous TAF8 mutation in a patient with intellectual...

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

El-Saafin, Farrah, Curry, Cynthia, Ye, Tao, Garnier, Jean-Marie, Kolb-Cheynel, Isabelle, Stierle, Matthieu, Downer, Natalie L, Dixon, Mathew P, Negroni, Luc, Berger, Imre, Thomas, Tim, Voss, Anne K, D
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Language:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddy126
Date:
April, 2018
File:
PDF, 1.52 MB
english, 2018
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