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1 Annotations Found.

An association has been curated linking Mt-nd3 and Leber hereditary optic neuropathy and dystonia 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 MT-ND3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Leber hereditary optic neuropathy and dystonia  (DOID:0111755)
  • 19 papers in CRRD have been used to annotate Mt-nd3
  • Curation Notes: ClinVar Annotator: match by term: Leber hereditary optic neuropathy with dystonia
  • Original References(s): PMID:17152068, PMID:17413873, PMID:19458970

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