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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking SALL4 and Duane retraction syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Al-Baradie R, etal., Am J Hum Genet. 2002 Nov;71(5):1195-9. Epub 2002 Oct 22.
  • 2 additional annotations were made from Al-Baradie R, etal., Am J Hum Genet. 2002 Nov;71(5):1195-9. Epub 2002 Oct 22.
  • 17 RGD objects have been annotated to Duane retraction syndrome  (DOID:12557)
  • 19 papers in RGD have been used to annotate SALL4
  • Curation Notes: DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human)


    • An association has been curated linking Sall4 and Duane retraction syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Al-Baradie R, etal., Am J Hum Genet. 2002 Nov;71(5):1195-9. Epub 2002 Oct 22.
  • The annotation has been inferred from sequence orthology with SALL4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Al-Baradie R, etal., Am J Hum Genet. 2002 Nov;71(5):1195-9. Epub 2002 Oct 22.
  • 17 RGD objects have been annotated to Duane retraction syndrome  (DOID:12557)
  • 20 papers in RGD have been used to annotate Sall4
  • Curation Notes: DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human)


    • An association has been curated linking Sall4 and Duane retraction syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Al-Baradie R, etal., Am J Hum Genet. 2002 Nov;71(5):1195-9. Epub 2002 Oct 22.
  • The annotation has been inferred from sequence orthology with SALL4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Al-Baradie R, etal., Am J Hum Genet. 2002 Nov;71(5):1195-9. Epub 2002 Oct 22.
  • 17 RGD objects have been annotated to Duane retraction syndrome  (DOID:12557)
  • 18 papers in RGD have been used to annotate Sall4
  • Curation Notes: DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human)


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