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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ppef1 and Coffin-Lowry syndrome 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 PPEF1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 17 RGD objects have been annotated to Coffin-Lowry syndrome  (DOID:3783)
  • 4 papers in RGD have been used to annotate Ppef1
  • Curation Notes: ClinVar Annotator: match by term: Coffin-Lowry syndrome
  • Original References(s): PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684


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