Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
编码剪接体蛋白的WBP4基因的双等位基因功能缺失变异会导致不同的神经发育综合征。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2023.10.013
Engal, Eden; Oja, Kaisa Teele; Maroofian, Reza; Geminder, Ophir; Le, Thuy-Linh; Marzin, Pauline; Guimier, Anne; Mor, Evyatar; Zvi, Naama; Elefant, Naama; Zaki, Maha S; Gleeson, Joseph G; Muru, Kai; Pajusalu, Sander; Wojcik, Monica H; Pachat, Divya; Elmaksoud, Marwa Abd; Chan Jeong, Won; Lee, Hane; Bauer, Peter; Zifarelli, Giovanni; Houlden, Henry; Daana, Muhannad; Elpeleg, Orly; Amiel, Jeanne; Lyonnet, Stanislas; Gordon, Christopher T; Harel, Tamar; Õunap, Katrin; Salton, Maayan; Mor-Shaked, Hagar
