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1 Annotations Found.

An association has been curated linking Nek1 and Beemer-Langer 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 NEK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to Beemer-Langer syndrome  (DOID:9249)
  • 10 papers in RGD have been used to annotate Nek1
  • Curation Notes: ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome
  • Original References(s): PMID:29068549

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