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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking SMAD4 and Short stature in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Le Goff C, etal., Nat Genet. 2011 Dec 11;44(1):85-8. doi: 10.1038/ng.1016.
  • 11 additional annotations were made from Le Goff C, etal., Nat Genet. 2011 Dec 11;44(1):85-8. doi: 10.1038/ng.1016.
  • 1115 CRRD objects have been annotated to Short stature  (HP:0004322)
  • 57 papers in CRRD have been used to annotate SMAD4
  • Curation Notes: DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M

  • This annotation was curated on 2017-05-02 14:09:50.0 by CRRD . For more information contact us

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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.