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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking FKRP and Abnormal circulating creatine kinase concentration in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Guglieri M, etal., Hum Mutat. 2008 Feb;29(2):258-66.
  • 3 additional annotations were made from Guglieri M, etal., Hum Mutat. 2008 Feb;29(2):258-66.
  • 269 RGD objects have been annotated to Abnormal circulating creatine kinase concentration  (HP:0040081)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: DNA:deletion, missense mutations:exon:p.L319R (c.956T>G), p.P442L (c.1325C>T), c.1136delG

  • This annotation was curated on 2019-02-23 09:00:14.0 by RGD . For more information contact us

    An association has been curated linking FKRP and Abnormal circulating creatine kinase concentration 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
  • 269 RGD objects have been annotated to Abnormal circulating creatine kinase concentration  (HP:0040081)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ORPHA:899

  • This annotation was curated on 2020-01-23 22:11:19.0 by RGD . For more information contact us

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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.