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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking FKRP and Flexion contracture in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Louhichi N, etal., Neurogenetics 2004 Feb;5(1):27-34. Epub 2003 Dec 2.
  • 7 additional annotations were made from Louhichi N, etal., Neurogenetics 2004 Feb;5(1):27-34. Epub 2003 Dec 2.
  • 884 RGD objects have been annotated to Flexion contracture  (HP:0001371)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: DNA:missense mutation: :p.A455D(human)


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