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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking APEX2 and sideroblastic anemia 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:28879933 (Homo sapiens)
  • 6 RGD objects have been annotated to sideroblastic anemia 1  (DOID:0060063)
  • 3 papers in RGD have been used to annotate APEX2
  • Curation Notes: ClinVar Annotator: match by term: Anemia, sideroblastic, 1


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