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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Pts and Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS 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 PTS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency  (DOID:9008812)
  • 16 papers in RGD have been used to annotate Pts
  • Curation Notes: ClinVar Annotator: match by term: Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency
  • Original References(s): PMID:10220141 PMID:22237589 PMID:25741868 PMID:26830550 PMID:28492532 PMID:7493990 PMID:8178819


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