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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking EPOR and X-linked mental retardation-hypotonic facies syndrome-1 in Sus scrofa.        

  • 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 EPOR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to X-linked mental retardation-hypotonic facies syndrome-1  (DOID:0080982)
  • 0 papers in RGD have been used to annotate EPOR
  • Curation Notes: ClinVar Annotator: match by term: Carpenter-Waziri syndrome
  • Original References(s): PMID:25741868 PMID:28492532 PMID:8174675 PMID:9394420


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