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Article

Impact of highly deleterious non-synonymous polymorphisms on GRIN2A protein's structure and function.

PloS one - 1 Jan 2023

Ahammad Ishtiaque, Jamal Tabassum Binte, Bhattacharjee Arittra, Chowdhury Zeshan Mahmud, Rahman Suparna, Hassan Md Rakibul, Hossain Mohammad Uzzal, Das Keshob Chandra, Keya Chaman Ara, Salimullah Md

Abstract excerpt

GRIN2A is a gene that encodes NMDA receptors found in the central nervous system and plays a pivotal role in excitatory synaptic transmission, plasticity and excitotoxicity in the mammalian central nervous system. Changes in this gene have been associated with a spectrum of neurodevelopmental disorders such as epilepsy. Previous studies on GRIN2A suggest that non-synonymous single nucleotide polymorphisms...

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PMID: 37319252
DOI: 10.1371/journal.pone.0286917
PMCID: PMC10270607

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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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