Delineation of functionally essential protein regions for 242 neurodevelopmental genes

Neurodevelopmental disorders (NDDs), including severe paediatric epilepsy, autism and intellectual disabilities are heterogeneous conditions in which clinical genetic testing can often identify a pathogenic variant. For many of them, genetic therapies will be tested in this or the coming years in cl...

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Detalles Bibliográficos
Autores principales: Iqbal, Sumaiya, Brünger, Tobias, Pérez-Palma, Eduardo, Macnee, Marie, Brunklaus, Andreas, Daly, Mark J, Campbell, Arthur J, Hoksza, David, May, Patrick, Lal, Dennis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9924913/
https://www.ncbi.nlm.nih.gov/pubmed/36256779
http://dx.doi.org/10.1093/brain/awac381

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9924913/
https://www.ncbi.nlm.nih.gov/pubmed/36256779
http://dx.doi.org/10.1093/brain/awac381

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