Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP815590.RAhSGsf87iBXeZ2QkzfuA--wGIdrQ1bYwRP1e8b6bmW0I130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP815590.RAhSGsf87iBXeZ2QkzfuA--wGIdrQ1bYwRP1e8b6bmW0I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP815590.RAhSGsf87iBXeZ2QkzfuA--wGIdrQ1bYwRP1e8b6bmW0I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP815590.RAhSGsf87iBXeZ2QkzfuA--wGIdrQ1bYwRP1e8b6bmW0I130_provenance.
- 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.
- befree-20150227 importedOn "2015-02-27" NP815590.RAhSGsf87iBXeZ2QkzfuA--wGIdrQ1bYwRP1e8b6bmW0I130_provenance.