Patrizia De Marco

Skipping of Exon 38 in Neurofibromatosis Type 1 Gene Is Not a Pathogenic Variant

ABSTRACT Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the NF1 tumor suppressor gene, encoding neurofibromin. Pathogenic variants include point mutations, exon deletions, and splicing alterations, leading to diverse clinical manifestation...