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

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

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

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Detalles Bibliográficos
Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Science
Q
Acceso en línea:https://doaj.org/article/f28a264039884f95805584f78054c327
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