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GENE - TERM ANNOTATION REPORT

RGD ID: 12143326
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: STAC3
Name: SH3 and cysteine rich domain 3
Acc ID: DOID:0081337
Term: congenital myopathy
Definition: A myopathy that is characterized by hypotonia and weakness, usually present from birth. (DO)
Definition Source(s): https://ijponline.biomedcentral.com/articles/10.1186/s13052-017-0419-z "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)
STAC3 ISOSTAC3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital myopathyPMID:23626854 PMID:25741868 PMID:28411587 PMID:28777491
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