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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Slc26a2 and brachydactyly in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Barbosa M, etal., Clin Genet. 2011 Dec;80(6):550-7. doi: 10.1111/j.1399-0004.2010.01595.x. Epub 2010 Dec 13.
  • The annotation has been inferred from sequence orthology with SLC26A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 additional annotations were made from Barbosa M, etal., Clin Genet. 2011 Dec;80(6):550-7. doi: 10.1111/j.1399-0004.2010.01595.x. Epub 2010 Dec 13.
  • 33 RGD objects have been annotated to brachydactyly  (DOID:0050581)
  • 20 papers in RGD have been used to annotate Slc26a2
  • Curation Notes: associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human)


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