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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:0111599
Term: distal arthrogryposis type 2B
Definition: A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. (DO)
Definition Source(s): PMID:19571066 "DO" "DO", PMID:9012416 "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)8554872ClinVarClinVar Annotator: match by term: Arthyrgryposis, distal, type 2BPMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:24319099 PMID:25337069 PMID:25741868 PMID:31974414
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