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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV234152 and ataxia telangiectasia 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
  • 119 RGD objects have been annotated to ataxia telangiectasia  (DOID:12704)
  • 1 papers in RGD have been used to annotate CV234152
  • Curation Notes: ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
  • Original References(s): PMID:25741868 PMID:28492532 PMID:33436325 PMID:33471991


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