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Impact of highly deleterious non-synonymous polymorphisms on GRIN2A protein’s structure and function
GRIN2A is a gene that encodes NMDA receptors found in the central nervous system and plays a pivotal role in excitatory synaptic transmission, plasticity and excitotoxicity in the mammalian central nervous system. Changes in this gene have been associated with a spectrum of neurodevelopmental disord...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10270607/ https://www.ncbi.nlm.nih.gov/pubmed/37319252 http://dx.doi.org/10.1371/journal.pone.0286917 |