A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations
Authors: Anton Safonov; Tomoki T Nomakuchi; Elizabeth Chao; Carrie Horton; Jill S Dolinsky; Amal Yussuf; Marcy Richardson; Virginia Speare; Shuwei Li; Zoe C Bogus; Maria Bonanni; Anna Raper; Staci Kallish; Marylyn D Ritchie; Katherine L Nathanson; Theodore G Drivas
Collaborators: Children's Hospital of Philadelphia; University of Pennsylvania