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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV51604 and stiff skin 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
  • 5 RGD objects have been annotated to stiff skin syndrome  (DOID:0111561)
  • 1 papers in RGD have been used to annotate CV51604
  • Curation Notes: ClinVar Annotator: match by term: Stiff skin syndrome
  • Original References(s): PMID:11700157 PMID:11933199 PMID:12203992 PMID:17627385 PMID:17657824 PMID:19161152 PMID:19780835 PMID:20301510 PMID:24941995 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25944730 PMID:26498160 PMID:27106435 PMID:27274304 PMID:27647783 PMID:28301460 PMID:28492532 PMID:29357934 PMID:31211626 PMID:31227806 PMID:31950671


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