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...

Full description

Saved in:
Bibliographic Details
Published in: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.
Format: Artigo
Language:Inglês
Published: Nature Publishing Group UK 2021
Subjects:
Data Descriptor
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items