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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking FLNB and osteochondrodysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Krakow D, etal., Nat Genet. 2004 Apr;36(4):405-10. Epub 2004 Feb 29.
  • 8 additional annotations were made from Krakow D, etal., Nat Genet. 2004 Apr;36(4):405-10. Epub 2004 Feb 29.
  • 1231 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 15 papers in RGD have been used to annotate FLNB
  • Curation Notes: atelosteogenesis type I,OMIM:108720;DNA:point mutation:exon:A173V


    • An association has been curated linking FLNB and osteochondrodysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Farrington-Rock C, etal., Hum Mutat. 2006 Jul;27(7):705-10.
  • 2 additional annotations were made from Farrington-Rock C, etal., Hum Mutat. 2006 Jul;27(7):705-10.
  • 1231 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 15 papers in RGD have been used to annotate FLNB
  • Curation Notes: DNA:missense, deletion mutations:exons:


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