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GENE - TERM ANNOTATION REPORT

RGD ID: 620843
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Lmx1b
Name: LIM homeobox transcription factor 1 beta
Acc ID: DOID:0112202
Term: developmental and epileptic encephalopathy
Definition: An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/28276062/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/31926847/ "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)
Lmx1b ISOLMX1B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathyPMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391
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