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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV428735 and familial hyperinsulinemic hypoglycemia 3 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 RGD objects have been annotated to familial hyperinsulinemic hypoglycemia 3  (DOID:0070216)
  • 0 papers in RGD have been used to annotate CV428735
  • Curation Notes: ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency
  • Original References(s): PMID:25741868 PMID:27269892 PMID:29510678 PMID:30257192 PMID:31197960 PMID:32375122 PMID:33129248


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