Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP542208.RAFfkzW0d32FgFNLOxDL6ZLg2WtP_zB_zby7YwGDkeD04130_assertion> ?p ?o ?g. }
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- NP542208.RAFfkzW0d32FgFNLOxDL6ZLg2WtP_zB_zby7YwGDkeD04130_assertion type Assertion NP542208.RAFfkzW0d32FgFNLOxDL6ZLg2WtP_zB_zby7YwGDkeD04130_head.
- NP542208.RAFfkzW0d32FgFNLOxDL6ZLg2WtP_zB_zby7YwGDkeD04130_assertion wasGeneratedBy ECO_0000203 NP542208.RAFfkzW0d32FgFNLOxDL6ZLg2WtP_zB_zby7YwGDkeD04130_provenance.
- NP542208.RAFfkzW0d32FgFNLOxDL6ZLg2WtP_zB_zby7YwGDkeD04130_assertion wasDerivedFrom befree-20140225 NP542208.RAFfkzW0d32FgFNLOxDL6ZLg2WtP_zB_zby7YwGDkeD04130_provenance.
- NP542208.RAFfkzW0d32FgFNLOxDL6ZLg2WtP_zB_zby7YwGDkeD04130_assertion SIO_000772 22885700 NP542208.RAFfkzW0d32FgFNLOxDL6ZLg2WtP_zB_zby7YwGDkeD04130_provenance.
- NP542208.RAFfkzW0d32FgFNLOxDL6ZLg2WtP_zB_zby7YwGDkeD04130_assertion evidence source_evidence_literature NP542208.RAFfkzW0d32FgFNLOxDL6ZLg2WtP_zB_zby7YwGDkeD04130_provenance.
- NP542208.RAFfkzW0d32FgFNLOxDL6ZLg2WtP_zB_zby7YwGDkeD04130_assertion description "[Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin-loading protein NIPBL for nearly 60% of individuals with classical CdLS, and by mutations in the core cohesin components SMC1A (~5%) and SMC3 (<1%) for a smaller fraction of probands.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP542208.RAFfkzW0d32FgFNLOxDL6ZLg2WtP_zB_zby7YwGDkeD04130_provenance.