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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ldlr and Smith-Lemli-Opitz 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 LDLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to Smith-Lemli-Opitz syndrome  (DOID:14692)
  • 51 papers in RGD have been used to annotate Ldlr
  • Curation Notes: ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome
  • Original References(s): PMID:10208499 PMID:12730724 PMID:15701167 PMID:17445538 PMID:17694954 PMID:25741868 PMID:28492532


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