Identification of homologous GluN subunits variants accelerates GRIN variants stratification

The clinical spectrum of GRIN-related neurodevelopmental disorders (GRD) results from gene- and variant-dependent primary alterations of the NMDA receptor, disturbing glutamatergic neurotransmission. Despite GRIN gene variants’ functional annotations being dually critical for stratification and prec...

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Detalles Bibliográficos
Autores principales: Santos-Gómez, Ana, García-Recio, Adrián, Miguez-Cabello, Federico, Soto, David, Altafaj, Xavier, Olivella, Mireia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cellular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9816381/
https://www.ncbi.nlm.nih.gov/pubmed/36619673
http://dx.doi.org/10.3389/fncel.2022.998719

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9816381/
https://www.ncbi.nlm.nih.gov/pubmed/36619673
http://dx.doi.org/10.3389/fncel.2022.998719

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