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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking VSX2 and blindness in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Ferda Percin E, etal., Nat Genet 2000 Aug;25(4):397-401.
  • 2 additional annotations were made from Ferda Percin E, etal., Nat Genet 2000 Aug;25(4):397-401.
  • 281 RGD objects have been annotated to blindness  (DOID:1432)
  • 5 papers in RGD have been used to annotate VSX2
  • Qualifier: susceptibility
  • Curation Notes: microphthalmia, OMIM:251600;DNA:missense mutations: :p.R200Q , p.R200P


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