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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV335875 and Brain-Lung-Thyroid 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
  • 3 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 0 papers in RGD have been used to annotate CV335875
  • Curation Notes: ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress


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