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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV1056353 and autosomal recessive chronic granulomatous disease 4 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
  • 48 RGD objects have been annotated to autosomal recessive chronic granulomatous disease 4  (DOID:0070193)
  • 0 papers in RGD have been used to annotate CV1056353
  • Curation Notes: ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
  • Original References(s): PMID:10910929 PMID:16199547 PMID:20167518 PMID:22876374 PMID:28492532


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