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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Rrm2b and chronic progressive external ophthalmoplegia in Chinchilla lanigera.        

  • 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 RRM2B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 23 RGD objects have been annotated to chronic progressive external ophthalmoplegia  (DOID:12558)
  • 2 papers in RGD have been used to annotate Rrm2b
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions
  • Original References(s): PMID:21646632 PMID:21951382 PMID:23107649 PMID:24741716 PMID:25741868 PMID:28492532 PMID:32161153


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