Multi-omic analysis of Neurofibromin 1 (NF1) splicing mutation c.61-2A>G
The neurofibromin 1 (NF1) splice-site mutation c.61-2A>G (rs1131691100) is a rare, path-ogenic, autosomal dominant variant that disrupts NF1 tumor-suppressor function, causing neurofibromatosis type 1 (NF1). Its pathogenic mechanism is poorly understood, and the potential for personalized therapeutic genome editing remains unknown due to the absence of a standard framework for investigating splicing disorders.