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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Pkp2 and Becker muscular dystrophy 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 PKP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Becker muscular dystrophy  (DOID:9883)
  • 23 papers in RGD have been used to annotate Pkp2
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type
  • Original References(s): PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 PMID:33919104


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