Article

An integrated approach to evaluate the functional effects of disease-associated NMDA receptor variants

2022-06-04

Abstract excerpt

<h4>ABSTRACT</h4> The NMDA receptor (NMDAR) is a ubiquitously expressed glutamate-gated ion channel that plays key roles in brain development and function. Not surprisingly, a variety of disease-associated variants have been identified in genes encoding NMDAR subunits. A critical first step to assess whether these variants contribute to their associated disorder is to characterize their effect on receptor functio...

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Literature Corpus work: c12dbfd6-5f1f-5b44-b64e-d02c05667ac9
DOI: 10.1101/2022.06.02.494569

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