Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function

Advances in sequencing technology have generated a large amount of genetic data from patients with neurological conditions. These data have provided diagnosis of many rare diseases, including a number of pathogenic de novo missense variants in GRIN genes encoding N-methyl-d-aspartate receptors (NMDA...

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Detalles Bibliográficos
Autores principales: Myers, Scott J, Yuan, Hongjie, Perszyk, Riley E, Zhang, Jing, Kim, Sukhan, Nocilla, Kelsey A, Allen, James P, Bain, Jennifer M, Lemke, Johannes R, Lal, Dennis, Benke, Timothy A, Traynelis, Stephen F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10508039/
https://www.ncbi.nlm.nih.gov/pubmed/37369021
http://dx.doi.org/10.1093/hmg/ddad104

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