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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Top3a and Potocki-Lupski syndrome in Mus musculus.        

  • 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 TOP3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 42 RGD objects have been annotated to Potocki-Lupski syndrome  (DOID:0060853)
  • 8 papers in RGD have been used to annotate Top3a
  • Curation Notes: ClinVar Annotator: match by term: Potocki-Lupski syndrome
  • Original References(s): PMID:28837307


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