Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1215475.RA4kvAh7gDI7Fxix8nEaabcTIqeHMMwa_oDlo1XWqln1k130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1215475.RA4kvAh7gDI7Fxix8nEaabcTIqeHMMwa_oDlo1XWqln1k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1215475.RA4kvAh7gDI7Fxix8nEaabcTIqeHMMwa_oDlo1XWqln1k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1215475.RA4kvAh7gDI7Fxix8nEaabcTIqeHMMwa_oDlo1XWqln1k130_provenance.
- NP1215475.RA4kvAh7gDI7Fxix8nEaabcTIqeHMMwa_oDlo1XWqln1k130_assertion description "[Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M233T responsible for Alzheimer's disease in a large Italian family, as well as SOD1 p.A4V and p.I113T in patients with amyotrophic lateral sclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1215475.RA4kvAh7gDI7Fxix8nEaabcTIqeHMMwa_oDlo1XWqln1k130_provenance.
- NP1215475.RA4kvAh7gDI7Fxix8nEaabcTIqeHMMwa_oDlo1XWqln1k130_assertion evidence source_evidence_literature NP1215475.RA4kvAh7gDI7Fxix8nEaabcTIqeHMMwa_oDlo1XWqln1k130_provenance.
- NP1215475.RA4kvAh7gDI7Fxix8nEaabcTIqeHMMwa_oDlo1XWqln1k130_assertion SIO_000772 25174650 NP1215475.RA4kvAh7gDI7Fxix8nEaabcTIqeHMMwa_oDlo1XWqln1k130_provenance.
- NP1215475.RA4kvAh7gDI7Fxix8nEaabcTIqeHMMwa_oDlo1XWqln1k130_assertion wasDerivedFrom befree-2016 NP1215475.RA4kvAh7gDI7Fxix8nEaabcTIqeHMMwa_oDlo1XWqln1k130_provenance.
- NP1215475.RA4kvAh7gDI7Fxix8nEaabcTIqeHMMwa_oDlo1XWqln1k130_assertion wasGeneratedBy ECO_0000203 NP1215475.RA4kvAh7gDI7Fxix8nEaabcTIqeHMMwa_oDlo1XWqln1k130_provenance.
- befree-2016 importedOn "2016-02-19" NP1215475.RA4kvAh7gDI7Fxix8nEaabcTIqeHMMwa_oDlo1XWqln1k130_provenance.