A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations
基因型优先的方法可以识别出高发的NF1致病变异，这些变异与特定的疾病相关。
期刊:Nature Communications
影响因子:15.7
doi:10.1038/s41467-025-57077-1
Safonov, Anton; Nomakuchi, Tomoki T; Chao, Elizabeth; Horton, Carrie; Dolinsky, Jill S; Yussuf, Amal; Richardson, Marcy; Speare, Virginia; Li, Shuwei; Bogus, Zoe C; Bonanni, Maria; Raper, Anna; Odia, Trust; Wubbenhorst, Bradley S; Faulders, Elsa; Schuth, Elisabeth M; Loranger, Kate; Zhang, Jingwen; Scalise, Carly Bess; ElNaggar, Adam; Sha, Youbao; Felker, Stephanie A; Weitzel, Jeffrey; Kallish, Staci; Ritchie, Marylyn D; Nathanson, Katherine L; Drivas, Theodore G
