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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking ERCC2 and Vestibular schwannoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Rajaraman P, etal., Neuro Oncol. 2010 Jan;12(1):37-48. Epub 2009 Dec 10.
  • 3 additional annotations were made from Rajaraman P, etal., Neuro Oncol. 2010 Jan;12(1):37-48. Epub 2009 Dec 10.
  • 8 RGD objects have been annotated to Vestibular schwannoma  (HP:0009588)
  • 75 papers in RGD have been used to annotate ERCC2
  • Qualifier: susceptibility
  • Curation Notes: DNA:missense mutation:cds:p.D312N (rs1799793)


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