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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Nphp3 and cystic kidney disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Bergmann C, etal., Am J Hum Genet. 2008 Apr;82(4):959-70. doi: 10.1016/j.ajhg.2008.02.017. Epub 2008 Mar 27.
  • The annotation has been inferred from sequence orthology with Nphp3 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from Bergmann C, etal., Am J Hum Genet. 2008 Apr;82(4):959-70. doi: 10.1016/j.ajhg.2008.02.017. Epub 2008 Mar 27.
  • 517 RGD objects have been annotated to cystic kidney disease  (DOID:2975)
  • 10 papers in RGD have been used to annotate Nphp3
  • Curation Notes: DNA:missense mutation: :p.I614S (mouse)


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