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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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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spelling	oai:doaj.org-article:f28a264039884f95805584f78054c3272021-12-02T14:02:34ZA catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration10.1038/s41597-020-00794-72052-4463https://doaj.org/article/f28a264039884f95805584f78054c3272021-01-01T00:00:00Zhttps://doi.org/10.1038/s41597-020-00794-7https://doaj.org/toc/2052-4463Measurement(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.13359476Friederike EhrhartAnnika JacobsenMaria RigauMattia BosioRajaram KaliyaperumalJeroen F. J. LarosEgon L. WillighagenAlfonso ValenciaMarco RoosSalvador Capella-GutierrezLeopold M. G. CurfsChris T. EveloNature PortfolioarticleScienceQENScientific Data, Vol 8, Iss 1, Pp 1-12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration
description	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
format	article
author	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
author_facet	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
author_sort	Friederike Ehrhart
title	A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration
title_short	A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration
title_full	A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration
title_fullStr	A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration
title_full_unstemmed	A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration
title_sort	catalogue of 863 rett-syndrome-causing mecp2 mutations and lessons learned from data integration
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/f28a264039884f95805584f78054c327
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A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration

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