Article

Complex functional phenotypes of NMDA receptor disease variants

2022-07-02

Abstract excerpt

NMDA receptors have essential roles in the physiology of central excitatory synapses and their dysfunction causes severe neuropsychiatric symptoms. Recently, a series of genetic variants have been identified in patients, however, functional information about these variants is sparse and their role in pathogenesis insufficiently known. Here we investigate the mechanism by which two GluN2A variants may be pathogenic...

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Literature Corpus work: d7162867-5a96-53d1-a966-1c9ea52d5a0b
DOI: 10.1101/2022.07.01.498520

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