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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Slc12a7 and autosomal dominant dyskeratosis congenita 2 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 SLC12A7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 17 RGD objects have been annotated to autosomal dominant dyskeratosis congenita 2  (DOID:0070016)
  • 8 papers in RGD have been used to annotate Slc12a7
  • Curation Notes: ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2
  • Original References(s): PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532


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