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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking RPGRIP1L and retinitis pigmentosa 3 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Fahim AT, etal., Adv Exp Med Biol. 2012;723:313-20. doi: 10.1007/978-1-4614-0631-0_41.
  • 5 additional annotations were made from Fahim AT, etal., Adv Exp Med Biol. 2012;723:313-20. doi: 10.1007/978-1-4614-0631-0_41.
  • 18 RGD objects have been annotated to retinitis pigmentosa 3  (DOID:0110414)
  • 8 papers in RGD have been used to annotate RPGRIP1L
  • Qualifier: severity
  • Curation Notes: DNA:polymorphism:cds:p.R744Q (rs2302677)(human)


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