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

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

doi:10.1038/s41597-020-00794-7

Scientific Data (Jan 2021)

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

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

Affiliations

Friederike Ehrhart: Department of Bioinformatics - BiGCaT, NUTRIM School of Nutrition and Translational Research in Metabolism, MHeNS School of Mental Health and Neuroscience, Maastricht University
Annika Jacobsen: Department of Human Genetics, Leiden University Medical Center
Maria Rigau: Barcelona Supercomputing Centre (BSC)
Mattia Bosio: Barcelona Supercomputing Centre (BSC)
Rajaram Kaliyaperumal: Department of Human Genetics, Leiden University Medical Center
Jeroen F. J. Laros: Department of Human Genetics, Leiden University Medical Center
Egon L. Willighagen: Department of Bioinformatics - BiGCaT, NUTRIM School of Nutrition and Translational Research in Metabolism, MHeNS School of Mental Health and Neuroscience, Maastricht University
Alfonso Valencia: Barcelona Supercomputing Centre (BSC)
Marco Roos: Department of Human Genetics, Leiden University Medical Center
Salvador Capella-Gutierrez: Barcelona Supercomputing Centre (BSC)
Leopold M. G. Curfs: GKC - Rett Expertise Centre, Maastricht University Medical Center
Chris T. Evelo: Department of Bioinformatics - BiGCaT, NUTRIM School of Nutrition and Translational Research in Metabolism, MHeNS School of Mental Health and Neuroscience, Maastricht University

DOI: https://doi.org/10.1038/s41597-020-00794-7
Journal volume & issue: Vol. 8, no. 1
pp. 1 – 12

Abstract

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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

Published in Scientific Data

ISSN: 2052-4463 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/sdata/

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