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1 Annotations Found.

An association has been curated linking Prss53 and branched-chain keto acid dehydrogenase kinase deficiency 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 PRSS53 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 38 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 3 papers in RGD have been used to annotate Prss53
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:25741868

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