Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP815590.RAhSGsf87iBXeZ2QkzfuA--wGIdrQ1bYwRP1e8b6bmW0I130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP815590.RAhSGsf87iBXeZ2QkzfuA--wGIdrQ1bYwRP1e8b6bmW0I130_assertion type Assertion NP815590.RAhSGsf87iBXeZ2QkzfuA--wGIdrQ1bYwRP1e8b6bmW0I130_head.
- NP815590.RAhSGsf87iBXeZ2QkzfuA--wGIdrQ1bYwRP1e8b6bmW0I130_assertion description "[Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP815590.RAhSGsf87iBXeZ2QkzfuA--wGIdrQ1bYwRP1e8b6bmW0I130_provenance.
- NP815590.RAhSGsf87iBXeZ2QkzfuA--wGIdrQ1bYwRP1e8b6bmW0I130_assertion evidence source_evidence_literature NP815590.RAhSGsf87iBXeZ2QkzfuA--wGIdrQ1bYwRP1e8b6bmW0I130_provenance.
- NP815590.RAhSGsf87iBXeZ2QkzfuA--wGIdrQ1bYwRP1e8b6bmW0I130_assertion SIO_000772 20358602 NP815590.RAhSGsf87iBXeZ2QkzfuA--wGIdrQ1bYwRP1e8b6bmW0I130_provenance.
- NP815590.RAhSGsf87iBXeZ2QkzfuA--wGIdrQ1bYwRP1e8b6bmW0I130_assertion wasDerivedFrom befree-20150227 NP815590.RAhSGsf87iBXeZ2QkzfuA--wGIdrQ1bYwRP1e8b6bmW0I130_provenance.
- NP815590.RAhSGsf87iBXeZ2QkzfuA--wGIdrQ1bYwRP1e8b6bmW0I130_assertion wasGeneratedBy ECO_0000203 NP815590.RAhSGsf87iBXeZ2QkzfuA--wGIdrQ1bYwRP1e8b6bmW0I130_provenance.