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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking ATRX and Hypertelorism in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Bouazzi H, etal., Indian J Med Res. 2016 Jan;143(1):43-8. doi: 10.4103/0971-5916.178589.
  • 8 additional annotations were made from Bouazzi H, etal., Indian J Med Res. 2016 Jan;143(1):43-8. doi: 10.4103/0971-5916.178589.
  • 879 RGD objects have been annotated to Hypertelorism  (HP:0000316)
  • 25 papers in RGD have been used to annotate ATRX
  • Curation Notes: DNA:point muation:exon:3868G>A (p.R1272Q) (human)


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