A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration

Friederike Ehrhart, Annika Jacobsen, Maria Rigau, Mattia Bosio, Rajaram Kaliyaperumal, Jeroen F. J. Laros, Egon L. Willighagen, Alfonso Valencia, Marco Roos, Salvador Capella-gutierrez, Leopold M. G. Curfs, Chris T. Evelo

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number10
Number of pages12
JournalScientific data
Volume8
Issue number1
DOIs
Publication statusPublished - 15 Jan 2021

Keywords

  • X-CHROMOSOME INACTIVATION
  • GENE
  • SEVERITY
  • PROTEIN
  • SPECTRUM
  • IMPACT
  • DOMAIN

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