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1 Annotations Found.

An association has been curated linking Col4a1 and combined oxidative phosphorylation deficiency 27 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to combined oxidative phosphorylation deficiency 27  (DOID:0111489)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27
  • Original References(s): PMID:28492532

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