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

oleh: 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

Format: Article
Diterbitkan: Nature Portfolio 2021-01-01

Deskripsi

Measurement(s) Rett syndrome • phenotype • MECP2 Gene Technology Type(s) digital curation • network analysis Sample Characteristic - Organism Homo sapiens Machine-accessible metadata file describing the reported data: https://doi.org/10.6084/m9.figshare.13359476