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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV1103543 and short-rib thoracic dysplasia 9 with or without polydactyly 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
  • 175 RGD objects have been annotated to short-rib thoracic dysplasia 9 with or without polydactyly  (DOID:0110097)
  • 0 papers in RGD have been used to annotate CV1103543
  • Curation Notes: ClinVar Annotator: match by term: Saldino-Mainzer syndrome
  • Original References(s): PMID:28492532


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