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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking QPRT and spondylocostal dysostosis 5 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
  • The annotation has been inferred by association of genotype and phenotype with RGD:11523008 (Homo sapiens)
  • 31 RGD objects have been annotated to spondylocostal dysostosis 5  (DOID:0112363)
  • 7 papers in RGD have been used to annotate QPRT
  • Curation Notes: ClinVar Annotator: match by term: Spondylocostal dysostosis 5
  • Original References(s): PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734


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