Article

Distances from ligands as main predictive features for pathogenicity and functional effect of variants in NMDA receptors

2024-05-07

Abstract excerpt

Genetic variants in genes GRIN1 , GRIN2A , GRIN2B , and GRIN2D , which encode subunits of the N-methyl-D-aspartate receptor (NMDAR), have been associated with severe and heterogeneous neurologic diseases. Missense variants in these genes can result in gain or loss of the NMDAR function, requiring opposite therapeutic treatments. Computational methods that predict pathogenicity and molecular functional effects are...

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Literature Corpus work: 87bc377c-5cdf-5a73-84a3-5165c3b98d05
DOI: 10.1101/2024.05.06.24306939

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