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Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Genet Med. 2023 Aug;25(8):100885. doi: 10.1016/j.gim.2023.100885. Epub 2023 May 8.
Genet Med. 2023.
PMID: 37165955
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
von Wintzingerode L, Ben-Zeev B, Cesario C, Chan KM, Depienne C, Elpeleg O, Iascone M, Kelley WV, Nassogne MC, Niceta M, Pezzani L, Rahner N, Revencu N, Bekheirnia MR, Santiago-Sim T, Tartaglia M, Thompson ML, Trivisano M, Hentschel J, Sticht H, Abou Jamra R, Oppermann H.
von Wintzingerode L, et al.
Genet Med. 2023 Jul;25(7):100859. doi: 10.1016/j.gim.2023.100859. Epub 2023 Apr 20.
Genet Med. 2023.
PMID: 37092538
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