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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Rtkn and Methylmalonyl-CoA Epimerase Deficiency 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 RTKN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 56 RGD objects have been annotated to Methylmalonyl-CoA Epimerase Deficiency  (DOID:9000454)
  • 6 papers in RGD have been used to annotate Rtkn
  • Curation Notes: ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III
  • Original References(s): PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498


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