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1 Annotations Found.

An association has been curated linking CV224877 and pyridoxamine 5'-phosphate oxidase deficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • 1 CRRD objects have been annotated to pyridoxamine 5'-phosphate oxidase deficiency  (DOID:0111329)
  • 1 papers in CRRD have been used to annotate CV224877
  • Curation Notes: ClinVar Annotator: match by term: Pyridoxal phosphate-responsive seizures
  • Original References(s): PMID:24266778, PMID:24645144, PMID:24658933, PMID:24781210, PMID:25741868, PMID:25762494, PMID:28492532, PMID:30311386

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