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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Maf and developmental and epileptic encephalopathy 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with MAF (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 55 RGD objects have been annotated to developmental and epileptic encephalopathy 1  (DOID:0080468)
  • 16 papers in RGD have been used to annotate Maf
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
  • Original References(s): PMID:17576681 PMID:24369382 PMID:24456803 PMID:25411445 PMID:25741868 PMID:26467025 PMID:27959697 PMID:28492532 PMID:29358611 PMID:29390993 PMID:30356099 PMID:31130284 PMID:31780880 PMID:31957018 PMID:9536098


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