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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking B3galnt2 and Progressive Encephalopathy with Amyotrophy and Optic Atrophy 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 B3GALNT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Progressive Encephalopathy with Amyotrophy and Optic Atrophy  (DOID:9005242)
  • 4 papers in RGD have been used to annotate B3galnt2
  • Curation Notes: ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy
  • Original References(s): PMID:25741868


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