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GENE - TERM ANNOTATION REPORT

RGD ID: 733582
Species: Mus musculus
RGD Object: Gene
Symbol: Artn
Name: artemin
Acc ID: DOID:0050709
Term: early infantile epileptic encephalopathy
Definition: A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Ohtahara_syndrome "DO" "DO", http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm "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)
Artn ISOARTN (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Early infantile epileptic encephalopathyPMID:23252400 PMID:28492532 PMID:31584066
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