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1 Annotations Found.

An association has been curated linking Plekhg2 and Jarcho-Levin Syndrome 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 PLEKHG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Jarcho-Levin Syndrome  (DOID:9007004)
  • 4 papers in RGD have been used to annotate Plekhg2
  • Curation Notes: ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive
  • Original References(s): PMID:25741868

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