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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking XRCC1 and Neutropenia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Erčulj N, etal., J Thorac Oncol. 2012 Oct;7(10):1609-17. doi: 10.1097/JTO.0b013e3182653d31.
  • 5 additional annotations were made from Erčulj N, etal., J Thorac Oncol. 2012 Oct;7(10):1609-17. doi: 10.1097/JTO.0b013e3182653d31.
  • 240 RGD objects have been annotated to Neutropenia  (HP:0001875)
  • 124 papers in RGD have been used to annotate XRCC1
  • Qualifier: susceptibility
  • Curation Notes: DNA:missense mutations:cds: p.R399Q (human)


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