Terminology Service for NFDI4Health
TSC1 Gene Mutation
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http://purl.obolibrary.org/obo/NCIT_C118398
A change in the nucleotide sequence of the TSC1 gene. [ ]
Term info
Label
TSC1 Gene Mutation
Synonyms
- Hamartin Gene Mutation
- TSC Gene Mutation
- TSC1 Gene Mutation
- TSC1 Mutation
- Tuberous Sclerosis 1 Gene Mutation
Subsets
NCIT_C116977, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP, CTEP
Display Name
TSC1 Gene Mutation
Preferred Name
TSC1 Gene Mutation
Semantic Type
Cell or Molecular Dysfunction
UMLS CUI
C3897378
code
C118398