MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases

Gillian S. Townend, Friederike Ehrhart*, Henk J. van Kranen, Mark Wilkinson, Annika Jacobsen, Marco Roos, Egon L. Willighagen, David van Enckevort, Chris T. Evelo, Leopold M. G. Curfs

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)914-924
Number of pages11
JournalHuman Mutation
Volume39
Issue number7
DOIs
Publication statusPublished - Jul 2018

Keywords

  • databases
  • FAIR data
  • genetic variation
  • MECP2
  • phenotype
  • Rett syndrome
  • INTELLECTUAL DISABILITY
  • MUTATION DATABASE
  • GENOMIC VARIATION
  • HUMAN-DISEASE
  • VARIANTS
  • HUMANS
  • BIOINFORMATICS
  • RESOURCES
  • BIOBANKS
  • UPDATE

Cite this