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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PDGFRB and Fragile skin in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Minatogawa M, etal., Am J Med Genet A. 2017 Sep;173(9):2422-2427. doi: 10.1002/ajmg.a.38310. Epub 2017 Jun 22.
  • 5 additional annotations were made from Minatogawa M, etal., Am J Med Genet A. 2017 Sep;173(9):2422-2427. doi: 10.1002/ajmg.a.38310. Epub 2017 Jun 22.
  • 37 RGD objects have been annotated to Fragile skin  (HP:0001030)
  • 45 papers in RGD have been used to annotate PDGFRB
  • Curation Notes: DNA:mutation:cds:c.1696T>C p.W566R(human)


    • An association has been curated linking PDGFRB and Fragile skin in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 37 RGD objects have been annotated to Fragile skin  (HP:0001030)
  • 45 papers in RGD have been used to annotate PDGFRB
  • Original References(s): MIM:616592


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