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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Gmeb2 and developmental and epileptic encephalopathy 33 in Chinchilla lanigera.        

  • 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 GMEB2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 45 RGD objects have been annotated to developmental and epileptic encephalopathy 33  (DOID:0080463)
  • 1 papers in RGD have been used to annotate Gmeb2
  • Curation Notes: ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
  • Original References(s): PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059


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