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Article

Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.

Human molecular genetics - 1 Feb 2024

Allen James P, Garber Kathryn B, Perszyk Riley, Khayat Cara T, Kell Steven A, Kaneko Maki, Quindipan Catherine, Saitta Sulagna, Ladda Roger L, Hewson Stacy, Inbar-Feigenberg Michal, Prasad Chitra, Prasad Asuri N, Olewiler Leah, Mu Weiyi, Rosenthal Liana S, Scala Marcello, Striano Pasquale, Zara Federico, McCullock Tyler W, Jauss Robin-Tobias, Lemke Johannes R, MacLean David M, Zhu Cheng, Yuan Hongjie, Myers Scott J, Traynelis Stephen F

Abstract excerpt

GRID1 and GRID2 encode the enigmatic GluD1 and GluD2 proteins, which form tetrameric receptors that play important roles in synapse organization and development of the central nervous system. Variation in these genes has been implicated in neurodevelopmental phenotypes. We evaluated GRID1 and GRID2 human variants from the literature, ClinVar, and clinical laboratories and found that many of these variants reside...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37944084
DOI: 10.1093/hmg/ddad188
PMCID: PMC10840383

Genes

GRID1
GRID2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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