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1 Annotations Found.

An association has been curated linking Vhl and severe congenital neutropenia 6 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  • 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 from sequence orthology with VHL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 RGD objects have been annotated to severe congenital neutropenia 6  (DOID:0112134)
  • 34 papers in RGD have been used to annotate Vhl
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
  • Original References(s): PMID:28492532

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