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

Author(s):: Townend, G.S.; Ehrhart, F.; Kranen, H.J. van; Wilkinson, M.; Jacobsen, A.; Roos, M. (0000-0002-8691-772X); Willighagen, E.L.; Enckevort, D. van; Evelo, C.T.; Curfs, L.M.G.

Published: 2018
Publication type: Article / Letter to editor

databasesFAIR datagenetic variationMECP2phenotypeRett syndrome

Date issued: 2018-07-31
Language: English
Is part of: Human Mutation (2018), Vol. 39, no. 7, p. 914-924
hdl: 1887/86524
doi: 10.1002/humu.23542
URL: https://onlinelibrary.wiley.com/doi/epdf/10.1002/humu.23542