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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking VSX1 and Abnormality of corneal thickness in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Mok JW, etal., J Hum Genet. 2008;53(9):842-9. doi: 10.1007/s10038-008-0319-6. Epub 2008 Jul 15.
  • 6 additional annotations were made from Mok JW, etal., J Hum Genet. 2008;53(9):842-9. doi: 10.1007/s10038-008-0319-6. Epub 2008 Jul 15.
  • 159 RGD objects have been annotated to Abnormality of corneal thickness  (HP:0011486)
  • 13 papers in RGD have been used to annotate VSX1
  • Curation Notes: DNA:missense mutations, snp:exon, intron:p.G160V, p.N151S, IVS1-11T>A


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