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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV178407 and spinal muscular atrophy, Jokela type 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 spinal muscular atrophy, Jokela type  (DOID:0081356)
  • 1 papers in RGD have been used to annotate CV178407
  • Curation Notes: ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type
  • Original References(s): PMID:25113787 PMID:25193783 PMID:25261972 PMID:25348631 PMID:25681414 PMID:25741868 PMID:25833818 PMID:26152333 PMID:28492532 PMID:28585542 PMID:29112723 PMID:29121267 PMID:29315381 PMID:29789341 PMID:30014597 PMID:33749723


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