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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Bphl and complex cortical dysplasia with other brain malformations 5 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 BPHL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to complex cortical dysplasia with other brain malformations 5  (DOID:0090135)
  • 3 papers in RGD have been used to annotate Bphl
  • Curation Notes: ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 5
  • Original References(s): PMID:25741868 PMID:26633542 PMID:28492532 PMID:34869359


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