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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Gfi1b and gray platelet syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Monteferrario D, etal., N Engl J Med. 2014 Jan 16;370(3):245-53. doi: 10.1056/NEJMoa1308130. Epub 2013 Dec 10.
  • The annotation has been inferred from sequence orthology with GFI1B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 additional annotations were made from Monteferrario D, etal., N Engl J Med. 2014 Jan 16;370(3):245-53. doi: 10.1056/NEJMoa1308130. Epub 2013 Dec 10.
  • 3 RGD objects have been annotated to gray platelet syndrome  (DOID:0111044)
  • 10 papers in RGD have been used to annotate Gfi1b
  • Curation Notes: DNA:nonsense mutation:c.859C>T, p.Gln287X(human)


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