Terminology Service for NFDI4Health
TSC2 Gene Mutation
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http://purl.obolibrary.org/obo/NCIT_C118399
A change in the nucleotide sequence of the TSC2 gene. [ ]
Term info
Label
TSC2 Gene Mutation
Synonyms
- TSC2 Gene Mutation
- TSC2 Mutation
- Tuberin Gene Mutation
- Tuberous Sclerosis 2 Gene Mutation
Subsets
NCIT_C116977, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP, CTEP
Display Name
TSC2 Gene Mutation
Preferred Name
TSC2 Gene Mutation
Semantic Type
Cell or Molecular Dysfunction
UMLS CUI
C3897377
code
C118399