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GENE - TERM ANNOTATION REPORT

RGD ID: 3065
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tpsb2
Name: tryptase beta 2
Acc ID: DOID:0080325
Term: tuberous sclerosis 2
Definition: A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/28667702 "DO" "DO", https://www.omim.org/entry/613254 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Tpsb2 ISOTPSB2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Tuberous sclerosis 2PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
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