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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403.
Brain. 2024.
PMID: 38038360
Free article.
X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.
Sun JH, Chen J, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Romero LP, Rinaldi B, Li WL, Li QQ, Wu D, Gerard B, Thorpe E, Bayat A, Shi YS.
Sun JH, et al. Among authors: ayala valenzuela fe.
PLoS Genet. 2021 Jun 23;17(6):e1009608. doi: 10.1371/journal.pgen.1009608. eCollection 2021 Jun.
PLoS Genet. 2021.
PMID: 34161333
Free PMC article.
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