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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV590569 and hypoparathyroidism-deafness-renal disease syndrome 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
  • 74 CRRD objects have been annotated to hypoparathyroidism-deafness-renal disease syndrome  (DOID:0060878)
  • 0 papers in CRRD have been used to annotate CV590569
  • Curation Notes: ClinVar Annotator: match by term: Barakat syndrome
  • Original References(s): PMID:25741868


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.