MECP2 variation in Rett syndrome—An overview of current coverage of genetic and phenotype data within existing databases

Rett syndrome (RTT) is a monogenic rare disorder that causes severe neurological problems. In most cases, it results from a loss‐of‐function mutation in the gene encoding methyl‐CPG‐binding protein 2 (MECP2). Currently, about 900 unique MECP2 variations (benign and pathogenic) have been identified a...

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Detalles Bibliográficos
Autores principales: Townend, Gillian S., Ehrhart, Friederike, van Kranen, Henk J., Wilkinson, Mark, Jacobsen, Annika, Roos, Marco, Willighagen, Egon L., van Enckevort, David, Evelo, Chris T., Curfs, Leopold M. G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Databases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6033003/
https://www.ncbi.nlm.nih.gov/pubmed/29704307
http://dx.doi.org/10.1002/humu.23542

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