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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

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

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Wang XC, etal., Genet Test Mol Biomarkers. 2016 Apr;20(4):176-84. doi: 10.1089/gtmb.2015.0267. Epub 2016 Feb 26.
  • 7 additional annotations were made from Wang XC, etal., Genet Test Mol Biomarkers. 2016 Apr;20(4):176-84. doi: 10.1089/gtmb.2015.0267. Epub 2016 Feb 26.
  • 175 RGD objects have been annotated to Cirrhosis  (HP:0001394)
  • 124 papers in RGD have been used to annotate XRCC1
  • Qualifier: severity
  • Curation Notes: DNA:missense mutation:cds:p.R399Q (28152G>A) (rs25487) (human)


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