Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA‐KUČINSKAS syndrome
RNA剪接
遗传学
生物
医学
基因
核糖核酸
作者
Alexandra Filatova,Valeria Freire,Ekaterina Lozier,Fedor A. Konovalov,Л. А. Бессонова,Elena Iudina,Valentina Gnetetskaya,Ilya Kanivets,С. А. Коростелев,Mikhail Skoblov