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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Pmpca and Kleefstra syndrome 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with PMPCA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 106 RGD objects have been annotated to Kleefstra syndrome 1  (DOID:0060352)
  • 9 papers in RGD have been used to annotate Pmpca
  • Curation Notes: ClinVar Annotator: match by term: Kleefstra syndrome 1
  • Original References(s): PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 PMID:28492532 PMID:31209758


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