Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III

por Buchh, Muqsit, Gillespie, Patrick J., Treat, Kayla, Abreu, Marco A., Schwantes-An, Tae-Hwi Linus, Helm, Benjamin M., Fang, Fang, Xuei, Xiaoling, Mantcheva, Lili, Suhrie, Kristen R., Graham, Brett H., Conboy, Erin, Vetrini, Francesco
Publicado 2022