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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ppp2r1a and Muscle Hypotonia in Chinchilla lanigera.        

  • 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 PPP2R1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 286 RGD objects have been annotated to Muscle Hypotonia  (DOID:9005603)
  • 1 papers in RGD have been used to annotate Ppp2r1a
  • Curation Notes: ClinVar Annotator: match by term: Generalized hypotonia
  • Original References(s): PMID:25741868 PMID:26168268 PMID:28492532 PMID:30755392 PMID:32901917 PMID:33106617


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