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Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders

Abstract Human genetic studies have revealed rare missense and protein-truncating variants in GRIN2A, encoding for the GluN2A subunit of the NMDA receptors, that confer significant risk for schizophrenia (SCZ). Mutations in GRIN2A are also associated with epilepsy and developmental delay/intellectua...

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Auteurs principaux: Nate Shepard, David Baez-Nieto, Sumaiya Iqbal, Erkin Kurganov, Nikita Budnik, Arthur J. Campbell, Jen Q. Pan, Morgan Sheng, Zohreh Farsi
Format: Artigo
Langue:Inglês
Publié: Nature Portfolio 2024-02-01
Collection:Scientific Reports
Accès en ligne:https://doi.org/10.1038/s41598-024-53102-3
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