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Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.
El-Saafin F, Curry C, Ye T, Garnier JM, Kolb-Cheynel I, Stierle M, Downer NL, Dixon MP, Negroni L, Berger I, Thomas T, Voss AK, Dobyns W, Devys D, Tora L. El-Saafin F, et al. Among authors: stierle m. Hum Mol Genet. 2018 Jun 15;27(12):2171-2186. doi: 10.1093/hmg/ddy126. Hum Mol Genet. 2018. PMID: 29648665 Free PMC article.
15 results