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Article

A Rare Variant Identified Within the GluN2B C-Terminus in a Patient with Autism Affects NMDA Receptor Surface Expression and Spine Density.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 12 Apr 2017

Liu Shuxi, Zhou Liang, Yuan Hongjie, Vieira Marta, Sanz-Clemente Antonio, Badger John D, Lu Wei, Traynelis Stephen F, Roche Katherine W

Abstract excerpt

NMDA receptors (NMDARs) are ionotropic glutamate receptors that are crucial for neuronal development and higher cognitive processes. NMDAR dysfunction is involved in a variety of neurological and psychiatric diseases; however, the mechanistic link between the human pathology and NMDAR dysfunction is poorly understood. Rare missense variants within NMDAR subunits have been identified in numerous patients with...

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PMID: 28283559
DOI: 10.1523/JNEUROSCI.0827-16.2017
PMCID: PMC5391683

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PSD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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