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Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Genet Med. 2023 Nov;25(11):100922. doi: 10.1016/j.gim.2023.100922. Epub 2023 Jul 1.
Genet Med. 2023.
PMID: 37403762
Free article.
Rabphilin-3A Drives Structural Modifications of Dendritic Spines Induced by Long-Term Potentiation.
Franchini L, Stanic J, Barzasi M, Zianni E, Mauceri D, Diluca M, Gardoni F.
Franchini L, et al. Among authors: barzasi m.
Cells. 2022 May 11;11(10):1616. doi: 10.3390/cells11101616.
Cells. 2022.
PMID: 35626653
Free PMC article.
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