Figure 1.
NF1 truncation mutations in three whole-genome-sequenced NF1-PA tumors. The locations of all truncation mutations are designated with a circle mapped to transcript NM_001042492. Truncating mutations were initially identified in WGS data and further validated with targeted approaches. Predicted functional effects are based on transcript NM_001042492. In patient T03, a somatic, copy-neutral LOH of 57.3 Mbp resulted in duplication of the p.W1662* germline variant.
