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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Clcn2 and 3-methylcrotonyl-CoA carboxylase 1 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 CLCN2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 24 RGD objects have been annotated to 3-methylcrotonyl-CoA carboxylase 1 deficiency  (DOID:0080579)
  • 19 papers in RGD have been used to annotate Clcn2
  • Curation Notes: ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1
  • Original References(s): PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532


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