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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV3052664 and Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 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
  • 2 RGD objects have been annotated to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial  (DOID:9000520)
  • 0 papers in RGD have been used to annotate CV3052664
  • Curation Notes: ClinVar Annotator: match by term: PCK2-related condition
  • Original References(s): PMID:28492532


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