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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CEP290 and Stuve-Wiedemann Syndrome 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11578396|RGD:151819293 (Homo sapiens) & RGD:11578396|RGD:151819293 (Homo sapiens)
  • 4 RGD objects have been annotated to Stuve-Wiedemann Syndrome 2  (DOID:9000702)
  • 19 papers in RGD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2
  • Original References(s): PMID:25741868 PMID:28492532


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