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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking ERCC2 and Abnormal B cell morphology in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Ganster C, etal., Genes Chromosomes Cancer. 2009 Sep;48(9):760-7. doi: 10.1002/gcc.20680.
  • 11 additional annotations were made from Ganster C, etal., Genes Chromosomes Cancer. 2009 Sep;48(9):760-7. doi: 10.1002/gcc.20680.
  • 101 RGD objects have been annotated to Abnormal B cell morphology  (HP:0002846)
  • 75 papers in RGD have been used to annotate ERCC2
  • Qualifier: severity
  • Curation Notes: DNA:SNP: :p.K751Q (rs13181)


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