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

Authors :
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
Source :
Scientific Data, Vol 8, Iss 1, Pp 1-12 (2021)
Publication Year :
2021
Publisher :
Nature Portfolio, 2021.

Abstract

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

Subjects

Subjects :
Science

Details

Language :
English
ISSN :
20524463
Volume :
8
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Scientific Data
Publication Type :
Academic Journal
Accession number :
edsdoj.f28a264039884f95805584f78054c327
Document Type :
article
Full Text :
https://doi.org/10.1038/s41597-020-00794-7