NF1 Gene Frameshift Mutation

Preferred Label : NF1 Gene Frameshift Mutation;

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

NCIt definition : A deletion or insertion mutation in the NF1 gene that shifts the reading frame for the transcript.;

NCI Metathesaurus CUI : CL1798666;

Details

Origin ID

C189780;

UMLS CUI

C5708944;

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) :

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