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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Sos1 and Nuchal Bleb, Familial 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 SOS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Nuchal Bleb, Familial  (DOID:9003145)
  • 2 papers in RGD have been used to annotate Sos1
  • Curation Notes: ClinVar Annotator: match by term: Nuchal bleb, familial
  • Original References(s): PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30325180 PMID:30784236 PMID:31560489


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