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

Rett syndrome (RTT) is a rare neurological disorder mostly caused by a genetic variation in MECP2. Making new MECP2 variants and the related phenotypes available provides data for better understanding of disease mechanisms and faster identification of variants for diagnosis. This is, however, curren...

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Detalhes bibliográficos
Publicado no:Sci Data
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2021
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Data Descriptor
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7810705/
https://ncbi.nlm.nih.gov/pubmed/33452270
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41597-020-00794-7
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