Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP976666.RAEUrklBMgPZxVht_z_m0XN0kYUrZhqOG8orP0fDG9j3o130_assertion> ?p ?o ?g. }
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- NP976666.RAEUrklBMgPZxVht_z_m0XN0kYUrZhqOG8orP0fDG9j3o130_assertion type Assertion NP976666.RAEUrklBMgPZxVht_z_m0XN0kYUrZhqOG8orP0fDG9j3o130_head.
- NP976666.RAEUrklBMgPZxVht_z_m0XN0kYUrZhqOG8orP0fDG9j3o130_assertion description "[Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP976666.RAEUrklBMgPZxVht_z_m0XN0kYUrZhqOG8orP0fDG9j3o130_provenance.
- NP976666.RAEUrklBMgPZxVht_z_m0XN0kYUrZhqOG8orP0fDG9j3o130_assertion evidence source_evidence_literature NP976666.RAEUrklBMgPZxVht_z_m0XN0kYUrZhqOG8orP0fDG9j3o130_provenance.
- NP976666.RAEUrklBMgPZxVht_z_m0XN0kYUrZhqOG8orP0fDG9j3o130_assertion SIO_000772 17273969 NP976666.RAEUrklBMgPZxVht_z_m0XN0kYUrZhqOG8orP0fDG9j3o130_provenance.
- NP976666.RAEUrklBMgPZxVht_z_m0XN0kYUrZhqOG8orP0fDG9j3o130_assertion wasDerivedFrom befree-20150227 NP976666.RAEUrklBMgPZxVht_z_m0XN0kYUrZhqOG8orP0fDG9j3o130_provenance.
- NP976666.RAEUrklBMgPZxVht_z_m0XN0kYUrZhqOG8orP0fDG9j3o130_assertion wasGeneratedBy ECO_0000203 NP976666.RAEUrklBMgPZxVht_z_m0XN0kYUrZhqOG8orP0fDG9j3o130_provenance.