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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV1296970 and autosomal dominant isolated ectopia lentis 1 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
  • 6 RGD objects have been annotated to autosomal dominant isolated ectopia lentis 1  (DOID:0111150)
  • 0 papers in RGD have been used to annotate CV1296970
  • Curation Notes: ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant
  • Original References(s): PMID:25741868 PMID:28492532


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