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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ap3b1 and mucopolysaccharidosis VI in Mus musculus.        

  • 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 AP3B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to mucopolysaccharidosis VI  (DOID:12800)
  • 11 papers in RGD have been used to annotate Ap3b1
  • Curation Notes: ClinVar Annotator: match by term: Mucopolysaccharidosis type 6
  • Original References(s): PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532


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