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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...
Autores principales: | Santos-Gómez, Ana, García-Recio, Adrián, Miguez-Cabello, Federico, Soto, David, Altafaj, Xavier, Olivella, Mireia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
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 |
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