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First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation.
Ghorbel R, Ghorbel R, Rouissi A, Fendri-Kriaa N, Ben Salah G, Belguith N, Ammar-Keskes L, Gouider-Khouja N, Fakhfakh F. Ghorbel R, et al. Biochem Biophys Res Commun. 2018 Feb 26;497(1):93-101. doi: 10.1016/j.bbrc.2018.02.029. Epub 2018 Feb 6. Biochem Biophys Res Commun. 2018. PMID: 29421650
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