De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

L.E.L.M. Vissers, S. Kalvakuri, E. de Boer, S. Geuer, M. Oud, I. van Outersterp, M. Kwint, M. Witmond, S. Kersten, D.L. Polla, D. Weijers, A. Begtrup, K. McWalter, A. Ruiz, E. Gabau, J.E.V. Morton, C. Griffith, K. Weiss, C. Gamble, J. BartleyH.J. Vernon, K. Brunet, C. Ruivenkamp, S.G. Kant, P. Kruszka, A. Larson, A. Afenjar, T.B. de Villemeur, K. Nugent, F.L. Raymond, H. Venselaar, F. Demurger, C. Soler-Alfonso, D. Li, E. Bhoj, I. Hayes, N.P. Hamilton, A. Ahmad, R. Fisher, M. van den Born, M. Willems, A. Sorlin, J. Delanne, S. Moutton, P. Christophe, F.T. Mau-Them, A. Vitobello, H. Goel, L. Massingham, C. Phornphutkul, Maaike Vreeburg, DDD Study

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)164-172
Number of pages9
JournalAmerican Journal of Human Genetics
Volume107
Issue number1
DOIs
Publication statusPublished - 2 Jul 2020

Keywords

  • deadenylase complex
  • regulators
  • repressor
  • subunit
  • DEADENYLASE COMPLEX
  • REGULATORS
  • REPRESSOR
  • SUBUNIT

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