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1 Annotations Found.

An association has been curated linking Tp53bp1 and microcephaly and chorioretinopathy 3 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 TP53BP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to microcephaly and chorioretinopathy 3  (DOID:0080107)
  • 15 papers in RGD have been used to annotate Tp53bp1
  • Curation Notes: ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 3
  • Original References(s): PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532

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