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

Townend, G.S.; Ehrhart, F.; Kranen, H.J. van; Wilkinson, M.; Jacobsen, A.; Roos, M.; ... ; Curfs, L.M.G. (2018)

Article / Letter to editor

• databases
• FAIR data
• genetic variation
• MECP2
• phenotype
• Rett syndrome

• All authors: Townend, G.S.; Ehrhart, F.; Kranen, H.J. van; Wilkinson, M.; Jacobsen, A.; Roos, M.; Willighagen, E.L.; Enckevort, D. van; Evelo, C.T.; Curfs, L.M.G.
• Date: 2018-07-31
• Journal: Human Mutation
• Volume: 39
• Issue: 7
• Pages: 914 - 924
• DOI: doi:10.1002/humu.23542
• Link: https://onlinelibrary.wiley.com/doi/epdf/10.1002/humu.23542