BLM Gene Mutation
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http://purl.obolibrary.org/obo/NCIT_C43287
A change in the nucleotide sequence of the BLM gene. [ ]
Term info
Label
BLM Gene Mutation
Synonyms
- BLM Gene Mutation
- BS Gene Mutation
- Bloom Syndrome Gene Mutation
- RECQ2 Gene Mutation
- RECQL2 Gene Mutation
- RECQL3 Gene Mutation
Subsets
NCIT_C116977, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP
Display Name
BLM Gene Mutation
Legacy Concept Name
BLM_Gene_Mutation
Preferred Name
BLM Gene Mutation
Semantic Type
Cell or Molecular Dysfunction
UMLS CUI
C1706890
code
C43287