Telomere Maintenance Gene Mutation

Preferred Label : Telomere Maintenance Gene Mutation;

NCIt definition : A change in the nucleotide sequence of a gene involved in telomere synthesis and maintenance.;

NCI Metathesaurus CUI : CL553260;

Details

Origin ID

C151919;

UMLS CUI

C4726555;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_molecular_abnormality_of_disease
- Hematologic Neoplasm with Germline Predisposition Associated with Telomerase Biology Disorder [NCIt concept]
molecular_abnormality_involves_gene
- Telomere Maintenance Gene [NCIt concept]

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