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1 Annotations Found.

An association has been curated linking Isca1 and multiple mitochondrial dysfunctions syndrome 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 ISCA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to multiple mitochondrial dysfunctions syndrome  (DOID:0070330)
  • 9 papers in RGD have been used to annotate Isca1
  • Curation Notes: ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome
  • Original References(s): PMID:28356563, PMID:30105122, PMID:31580634

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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.