Inactivating BLM Gene Mutation

Preferred Label : Inactivating BLM Gene Mutation;

NCIt synonyms : Inactivating Bloom Syndrome Gene Mutation; Inactivating BS Gene Mutation; Inactivating BLM Mutation; BLM Loss of Function Gene Mutation; BLM Inactivating Mutation; Inactivating RECQ2 Gene Mutation; Inactivating RECQL2 Gene Mutation; BLM Inactivating Gene Mutation; Inactivating RECQL3 Gene Mutation; BLM Loss of Function Mutation; BLM Gene Inactivation;

NCIt definition : A change in the nucleotide sequence of the BLM gene that either inhibits expression or results in the translation of an inactive Bloom syndrome protein.;

NCI Metathesaurus CUI : CL1661971;

Details

Origin ID

C179341;

UMLS CUI

C5552923;

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
- BLM Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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