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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Retreg2 and myofibrillar myopathy 1 in Mus musculus.        

  • 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 RETREG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 47 RGD objects have been annotated to myofibrillar myopathy 1  (DOID:0080092)
  • 2 papers in RGD have been used to annotate Retreg2
  • Curation Notes: ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
  • Original References(s): PMID:28492532


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