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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Vydáno v:Sci Data
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2021
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Data Descriptor
On-line přístup: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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