TSC2 Monoallelic Inactivation

Preferred Label : TSC2 Monoallelic Inactivation;

NCIt synonyms : Monoallelic Tuberous Sclerosis 2 Gene Inactivation; TSC2 Monoallelic Gene Inactivation; TSC2 LOH; Monoallelic TSC2 Gene Inactivation; Monoallelic Tuberin Gene Inactivation; TSC2 Loss of Heterozygosity;

NCIt definition : Any gain, loss, or exchange of DNA that results in monoallelic loss of function mutations in the TSC2 gene.;

NCI Metathesaurus CUI : CL937403;

Détails

Origin ID

C157747;

UMLS CUI

C4763826;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
molecular_abnormality_involves_gene
- TSC2 Gene [NCIt concept]

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