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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Stxbp1 and Developmental Disabilities 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 STXBP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 776 RGD objects have been annotated to Developmental Disabilities  (DOID:9008086)
  • 45 papers in RGD have been used to annotate Stxbp1
  • Curation Notes: ClinVar Annotator: match by term: Global developmental delay
  • Original References(s): PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26865513 PMID:27779742 PMID:28492532 PMID:30185235 PMID:30842647


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