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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking SH2B3 and developmental and epileptic encephalopathy 67 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8602216 (Homo sapiens)
  • 2 RGD objects have been annotated to developmental and epileptic encephalopathy 67  (DOID:0112203)
  • 13 papers in RGD have been used to annotate SH2B3
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67
  • Original References(s): PMID:20404132 PMID:25741868


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