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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Stra6 and Isolated Microphthalmia with Coloboma in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
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  • The annotation was made from Casey J, etal., Hum Mutat. 2011 Dec;32(12):1417-26. doi: 10.1002/humu.21590. Epub 2011 Sep 29.
  • The annotation has been inferred from sequence orthology with STRA6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Casey J, etal., Hum Mutat. 2011 Dec;32(12):1417-26. doi: 10.1002/humu.21590. Epub 2011 Sep 29.
  • 11 RGD objects have been annotated to Isolated Microphthalmia with Coloboma  (DOID:9002642)
  • 17 papers in RGD have been used to annotate Stra6
  • Curation Notes: DNA:missense mutation:CDS:p.G204K (human)


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