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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV45380 and combined cellular and humoral immune defects with granulomas 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
  • 3 RGD objects have been annotated to combined cellular and humoral immune defects with granulomas  (DOID:0112253)
  • 1 papers in RGD have been used to annotate CV45380
  • Curation Notes: ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas
  • Original References(s): PMID:20603253 PMID:21131235 PMID:24481607 PMID:25109802 PMID:25333069 PMID:25741868 PMID:26476733 PMID:26515615 PMID:28492532 PMID:28747913


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