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Article

Complex functional phenotypes of NMDA receptor disease variants.

Molecular psychiatry - 1 Dec 2022

Iacobucci Gary J, Liu Beiying, Wen Han, Sincox Brittany, Zheng Wenjun, Popescu Gabriela K

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...

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PMID: 36117210
DOI: 10.1038/s41380-022-01774-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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