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GENE - TERM ANNOTATION REPORT

RGD ID: 13982325
Species: Sus scrofa
RGD Object: Gene
Symbol: TNNT3
Name: troponin T3, fast skeletal type
Acc ID: DOID:0111601
Term: distal arthrogryposis type 2B2
Definition: A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5. (DO)
Definition Source(s): PMID:12865991 "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)
TNNT3 ISOTNNT3 (Homo sapiens)7240710OMIM  
TNNT3 ISOTNNT3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Arthrogryposis, distal, type 2B2 | ClinVar Annotator: match by term: TNNT3-related conditionPMID:10525521 PMID:12865991 PMID:17576681 PMID:19142688 PMID:21402185 PMID:24319099 PMID:25337069 PMID:25741868 PMID:28492532 PMID:31974414 PMID:9536098
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