Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP639454.RAGWdwYlGAQ1Kb_dl-kvW4-1NuQDlvaJtwiqvZwOsHpJc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP639454.RAGWdwYlGAQ1Kb_dl-kvW4-1NuQDlvaJtwiqvZwOsHpJc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP639454.RAGWdwYlGAQ1Kb_dl-kvW4-1NuQDlvaJtwiqvZwOsHpJc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP639454.RAGWdwYlGAQ1Kb_dl-kvW4-1NuQDlvaJtwiqvZwOsHpJc130_provenance.
- NP639454.RAGWdwYlGAQ1Kb_dl-kvW4-1NuQDlvaJtwiqvZwOsHpJc130_assertion description "[Infrequently, FBN1 mutations cause dominantly inherited Weill-Marchesani syndrome (WMS), isolated ectopia lentis (IEL), or the fibrotic condition, geleophysic dysplasia (GD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP639454.RAGWdwYlGAQ1Kb_dl-kvW4-1NuQDlvaJtwiqvZwOsHpJc130_provenance.
- NP639454.RAGWdwYlGAQ1Kb_dl-kvW4-1NuQDlvaJtwiqvZwOsHpJc130_assertion evidence source_evidence_literature NP639454.RAGWdwYlGAQ1Kb_dl-kvW4-1NuQDlvaJtwiqvZwOsHpJc130_provenance.
- NP639454.RAGWdwYlGAQ1Kb_dl-kvW4-1NuQDlvaJtwiqvZwOsHpJc130_assertion SIO_000772 21858451 NP639454.RAGWdwYlGAQ1Kb_dl-kvW4-1NuQDlvaJtwiqvZwOsHpJc130_provenance.
- NP639454.RAGWdwYlGAQ1Kb_dl-kvW4-1NuQDlvaJtwiqvZwOsHpJc130_assertion wasDerivedFrom befree-20140225 NP639454.RAGWdwYlGAQ1Kb_dl-kvW4-1NuQDlvaJtwiqvZwOsHpJc130_provenance.
- NP639454.RAGWdwYlGAQ1Kb_dl-kvW4-1NuQDlvaJtwiqvZwOsHpJc130_assertion wasGeneratedBy ECO_0000203 NP639454.RAGWdwYlGAQ1Kb_dl-kvW4-1NuQDlvaJtwiqvZwOsHpJc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP639454.RAGWdwYlGAQ1Kb_dl-kvW4-1NuQDlvaJtwiqvZwOsHpJc130_provenance.