NF1 and neurofibromatosis type 1: An example of the first is seen in NF1, where variants (e.g. NM_001042492.3:c.-272G > C) that remove the stop codon of a native uORF, transforming it into an uoORF (as there are no alternative in-frame stop codons before the CDS), have been observed in patients with neurofibromatosis type I [25].