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
通过全外显子组测序鉴定出患有致命型 III 型短肋胸椎发育不良患者的 DYNC2H1 基因中一种新型深内含子变异
期刊:Cold Spring Harbor Molecular Case Studies
影响因子:1.8
doi:10.1101/mcs.a006254
Muqsit Buchh #, Patrick J Gillespie #, Kayla Treat, Marco A Abreu, Tae-Hwi Linus Schwantes-An, Benjamin M Helm, Fang Fang, Xiaoling Xuei, Lili Mantcheva, Kristen R Suhrie, Brett H Graham, Erin Conboy #, Francesco Vetrini #
