Preferred Label : Deleterious NF1 Gene Mutation;
NCIt synonyms : Deleterious Neurofibromin 1 Gene Mutation; Deleterious NF1 Mutation; Deleterious NFNS Gene Mutation;
NCIt definition : A mutation in the NF1 gene that is associated with an increased risk of disease.;
NCI Metathesaurus CUI : CL1406486;
Origin ID : C172353;
UMLS CUI : C5419600;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene