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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV212980 and scapuloperoneal spinal muscular atrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • 2 RGD objects have been annotated to scapuloperoneal spinal muscular atrophy  (DOID:0111552)
  • 1 papers in RGD have been used to annotate CV212980
  • Curation Notes: ClinVar Annotator: match by term: Scapuloperoneal spinal muscular atrophy
  • Original References(s): PMID:22851605 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28898540


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