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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking MYOC and Abnormality of the optic disc in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Michels-Rautenstrauss K, etal., Hum Mutat. 2002 Dec;20(6):479-80.
  • 5 additional annotations were made from Michels-Rautenstrauss K, etal., Hum Mutat. 2002 Dec;20(6):479-80.
  • 733 RGD objects have been annotated to Abnormality of the optic disc  (HP:0012795)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:missense mutations, nonsense mutation:cds:multiple


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