Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP937830.RApVEeyO4JxJEEOmtZK35zPbigOovM5PJPQkpnzqvvb7Q130_assertion> ?p ?o ?g. }
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- NP937830.RApVEeyO4JxJEEOmtZK35zPbigOovM5PJPQkpnzqvvb7Q130_assertion type Assertion NP937830.RApVEeyO4JxJEEOmtZK35zPbigOovM5PJPQkpnzqvvb7Q130_head.
- NP937830.RApVEeyO4JxJEEOmtZK35zPbigOovM5PJPQkpnzqvvb7Q130_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." NP937830.RApVEeyO4JxJEEOmtZK35zPbigOovM5PJPQkpnzqvvb7Q130_provenance.
- NP937830.RApVEeyO4JxJEEOmtZK35zPbigOovM5PJPQkpnzqvvb7Q130_assertion evidence source_evidence_literature NP937830.RApVEeyO4JxJEEOmtZK35zPbigOovM5PJPQkpnzqvvb7Q130_provenance.
- NP937830.RApVEeyO4JxJEEOmtZK35zPbigOovM5PJPQkpnzqvvb7Q130_assertion SIO_000772 22885700 NP937830.RApVEeyO4JxJEEOmtZK35zPbigOovM5PJPQkpnzqvvb7Q130_provenance.
- NP937830.RApVEeyO4JxJEEOmtZK35zPbigOovM5PJPQkpnzqvvb7Q130_assertion wasDerivedFrom befree-20140225 NP937830.RApVEeyO4JxJEEOmtZK35zPbigOovM5PJPQkpnzqvvb7Q130_provenance.
- NP937830.RApVEeyO4JxJEEOmtZK35zPbigOovM5PJPQkpnzqvvb7Q130_assertion wasGeneratedBy ECO_0000203 NP937830.RApVEeyO4JxJEEOmtZK35zPbigOovM5PJPQkpnzqvvb7Q130_provenance.