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A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration.
Ehrhart, Friederike; Jacobsen, Annika; Rigau, Maria; Bosio, Mattia; Kaliyaperumal, Rajaram; Laros, Jeroen F J; Willighagen, Egon L; Valencia, Alfonso; Roos, Marco; Capella-Gutierrez, Salvador; Curfs, Leopold M G; Evelo, Chris T.
Afiliación
  • Ehrhart F; Department of Bioinformatics - BiGCaT, NUTRIM School of Nutrition and Translational Research in Metabolism, MHeNS School of Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands. friederike.ehrhart@maastrichtuniversity.nl.
  • Jacobsen A; GKC - Rett Expertise Centre, Maastricht University Medical Center, Maastricht, The Netherlands. friederike.ehrhart@maastrichtuniversity.nl.
  • Rigau M; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Bosio M; Barcelona Supercomputing Centre (BSC), Barcelona, Spain.
  • Kaliyaperumal R; Barcelona Supercomputing Centre (BSC), Barcelona, Spain.
  • Laros JFJ; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Willighagen EL; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Valencia A; Department of Bioinformatics - BiGCaT, NUTRIM School of Nutrition and Translational Research in Metabolism, MHeNS School of Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.
  • Roos M; Barcelona Supercomputing Centre (BSC), Barcelona, Spain.
  • Capella-Gutierrez S; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain.
  • Curfs LMG; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Evelo CT; Barcelona Supercomputing Centre (BSC), Barcelona, Spain.
Sci Data ; 8(1): 10, 2021 01 15.
Article en En | MEDLINE | ID: mdl-33452270
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome de Rett / Proteína 2 de Unión a Metil-CpG / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Sci Data Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome de Rett / Proteína 2 de Unión a Metil-CpG / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Sci Data Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos