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GENE - TERM ANNOTATION REPORT

RGD ID: 13918889
Species: Sus scrofa
RGD Object: Gene
Symbol: FBXL3
Name: F-box and leucine rich repeat protein 3
Acc ID: DOID:891
Term: progressive myoclonus epilepsy
Definition: A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death. (DO)
Definition Source(s): http://pn.bmj.com/content/15/3/164.long "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)
FBXL3 ISOFBXL3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsyPMID:18414213 PMID:24767253 PMID:25741868 PMID:28492532
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