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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Kifbp and Shprintzen-Goldberg Craniosynostosis in Mus musculus.        

  • 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 KIFBP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 55 RGD objects have been annotated to Shprintzen-Goldberg Craniosynostosis  (DOID:9007185)
  • 4 papers in RGD have been used to annotate Kifbp
  • Curation Notes: ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome
  • Original References(s): PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 PMID:25741868 PMID:26467025 PMID:28277559 PMID:28492532 PMID:32939943


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