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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking MED12 and Relative macrocephaly in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Risheg H, etal., Nat Genet. 2007 Apr;39(4):451-3. Epub 2007 Mar 4.
  • 8 additional annotations were made from Risheg H, etal., Nat Genet. 2007 Apr;39(4):451-3. Epub 2007 Mar 4.
  • 74 RGD objects have been annotated to Relative macrocephaly  (HP:0004482)
  • 13 papers in RGD have been used to annotate MED12
  • Curation Notes: associated with Opitz-Kaveggia Syndrome; DNA:missense mutation:cds:2881C>T(p.R961W)(human)


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