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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Calr and sideroblastic anemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Nangalia J, etal., N Engl J Med. 2013 Dec 19;369(25):2391-405. doi: 10.1056/NEJMoa1312542. Epub 2013 Dec 10.
  • The annotation has been inferred from sequence orthology with CALR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Nangalia J, etal., N Engl J Med. 2013 Dec 19;369(25):2391-405. doi: 10.1056/NEJMoa1312542. Epub 2013 Dec 10.
  • 21 RGD objects have been annotated to sideroblastic anemia  (DOID:8955)
  • 79 papers in RGD have been used to annotate Calr
  • Curation Notes: DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human)


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