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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking GP1BA and Bernard-Soulier Syndrome, Autosomal Dominant in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Savoia A, etal., Blood. 2001 Mar 1;97(5):1330-5.
  • 2 additional annotations were made from Savoia A, etal., Blood. 2001 Mar 1;97(5):1330-5.
  • 1 RGD objects have been annotated to Bernard-Soulier Syndrome, Autosomal Dominant  (DOID:9002406)
  • 36 papers in RGD have been used to annotate GP1BA
  • Curation Notes: DNA:missense mutation: :p.A156V (515C>T) (human)


    • An association has been curated linking GP1BA and Bernard-Soulier Syndrome, Autosomal Dominant in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Vettore S, etal., Haematologica. 2008 Nov;93(11):1743-7. doi: 10.3324/haematol.12830. Epub 2008 Sep 24.
  • 2 additional annotations were made from Vettore S, etal., Haematologica. 2008 Nov;93(11):1743-7. doi: 10.3324/haematol.12830. Epub 2008 Sep 24.
  • 1 RGD objects have been annotated to Bernard-Soulier Syndrome, Autosomal Dominant  (DOID:9002406)
  • 36 papers in RGD have been used to annotate GP1BA
  • Curation Notes: DNA:missense mutation: :p.N41H (169A>C) (human)


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