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26. Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356× mutation in synapsin I. Giannandrea M; Guarnieri FC; Gehring NH; Monzani E; Benfenati F; Kulozik AE; Valtorta F PLoS One; 2013; 8(6):e67724. PubMed ID: 23818987 [TBL] [Abstract][Full Text] [Related]
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34. Premature Termination Codon in 5' Region of Desmoplakin and Plakoglobin Genes May Escape Nonsense-Mediated Decay through the Reinitiation of Translation. Vallverdú-Prats M; Brugada R; Alcalde M Int J Mol Sci; 2022 Jan; 23(2):. PubMed ID: 35054841 [TBL] [Abstract][Full Text] [Related]
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38. A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks. Domingo D; Nawaz U; Corbett M; Espinoza JL; Tatton-Brown K; Coman D; Wilkinson MF; Gecz J; Jolly LA Hum Mol Genet; 2020 Aug; 29(15):2568-2578. PubMed ID: 32667670 [TBL] [Abstract][Full Text] [Related]