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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Maf and Cataract Microcornea Syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
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  • The annotation was made from Hansen L, etal., Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3291-303. doi: 10.1167/iovs.08-3149. Epub 2009 Jan 31.
  • The annotation has been inferred from sequence orthology with MAF (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Hansen L, etal., Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3291-303. doi: 10.1167/iovs.08-3149. Epub 2009 Jan 31.
  • 2 RGD objects have been annotated to Cataract Microcornea Syndrome  (DOID:9003799)
  • 16 papers in RGD have been used to annotate Maf
  • Curation Notes: DNA:missense mutations: :p.R299S (c.895C>A), p.K320E (c.958A>G) (human)


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