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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Mt-nd6 and Myoclonic Epilepsies in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Dermaut B, etal., J Neurol Neurosurg Psychiatry. 2010 Jan;81(1):90-3.
  • The annotation has been inferred from sequence orthology with MT-ND6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Dermaut B, etal., J Neurol Neurosurg Psychiatry. 2010 Jan;81(1):90-3.
  • 86 CRRD objects have been annotated to Myoclonic Epilepsies  (DOID:9005154)
  • 19 papers in CRRD have been used to annotate Mt-nd6
  • Curation Notes: DNA:missense mutation: :m.14487T>C (p.M63V) (human)

  • This annotation was curated on 2018-06-02 09:00:58.0 by CRRD . For more information contact us

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