Autor: Jaeryuk Kim, Gu-Hwan Kim, Soojin Hwang, Beom Hee Lee, Eul-Ju Seo

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with extensive allelic heterogeneity. Although RNA-based assays can increase sensitivity, their cost and complexity limit their routine use. A DNA-only tiered diagnostic approach wa…