NF1 Gene Nonsense Mutation

Preferred Label : NF1 Gene Nonsense Mutation;

NCIt synonyms : Neurofibromin 1 Gene Nonsense Mutation; NFNS Gene Nonsense Mutation; NF1 Nonsense Mutation;

NCIt definition : A change in the sequence of the NF1 gene that encodes a premature stop codon.;

NCI Metathesaurus CUI : CL1798665;

Details

Origin ID

C189781;

UMLS CUI

C5708754;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- NF1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients