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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking PYGL and Lactic acidosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Beauchamp NJ, etal., J Inherit Metab Dis. 2007 Oct;30(5):722-34. Epub 2007 Aug 21.
  • 11 additional annotations were made from Beauchamp NJ, etal., J Inherit Metab Dis. 2007 Oct;30(5):722-34. Epub 2007 Aug 21.
  • 180 CRRD objects have been annotated to Lactic acidosis  (HP:0003128)
  • 17 papers in CRRD have been used to annotate PYGL
  • Curation Notes: DNA:mutation:multiple


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