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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking PYCR1 and Abnormality of connective tissue 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:8624570 (Homo sapiens)
  • 2039 RGD objects have been annotated to Abnormality of connective tissue  (HP:0003549)
  • 7 papers in RGD have been used to annotate PYCR1
  • Curation Notes: ClinVar Annotator: match by term: Abnormality of connective tissue
  • Original References(s): PMID:19648921 PMID:24035636 PMID:25741868


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