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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV29319 and homocystinuria-megaloblastic anemia cblG type 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
  • 4 RGD objects have been annotated to homocystinuria-megaloblastic anemia cblG type  (DOID:0112256)
  • 1 papers in RGD have been used to annotate CV29319
  • Curation Notes: ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
  • Original References(s): PMID:28492532 PMID:34625984 PMID:8968737


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