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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking PITX2 and Arts syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from de Brouwer AP, etal., Am J Hum Genet. 2007 Sep;81(3):507-18. Epub 2007 Aug 3.
  • 2 additional annotations were made from de Brouwer AP, etal., Am J Hum Genet. 2007 Sep;81(3):507-18. Epub 2007 Aug 3.
  • 2 RGD objects have been annotated to Arts syndrome  (DOID:0050647)
  • 14 papers in RGD have been used to annotate PITX2
  • Curation Notes: DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human)


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