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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Exosc3 and pontocerebellar hypoplasia 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 EXOSC3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 32 RGD objects have been annotated to pontocerebellar hypoplasia  (DOID:0060264)
  • 7 papers in RGD have been used to annotate Exosc3
  • Curation Notes: ClinVar Annotator: match by term: Pontocerebellar hypoplasia
  • Original References(s): PMID:18414213 PMID:22544365 PMID:23284067 PMID:23975261 PMID:24033266 PMID:24524299 PMID:25533962 PMID:25741868 PMID:25809939 PMID:28492532 PMID:31980526 PMID:33462000 PMID:36004024


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