Gisela G. Slaats, et.al., DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome., The Journal of clinical investigation, 2015, 125

http://rdf.ncbi.nlm.nih.gov/pubmed/26301811

Gisela G. Slaats, et.al., DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome., The Journal of clinical investigation, 2015, 125

pubmed

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• abnormal cell nucleus morphology_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>
  http://metadb.riken.jp/0003111129P2OlaHsdCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi
• abnormal DNA replication_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>
  http://metadb.riken.jp/0008057129P2OlaHsdCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi
• abnormal double-strand DNA break repair_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>
  http://metadb.riken.jp/0010948129P2OlaHsdCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi
• absent kidney epithelial cell primary cilium_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>
  http://metadb.riken.jp/0020384129P2OlaHsdCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi