Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_provenance.
- befree-2016 importedOn "2016-02-19" NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_provenance.
- NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_assertion wasGeneratedBy ECO_0000203 NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_provenance.
- NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_assertion wasDerivedFrom befree-2016 NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_provenance.
- NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_assertion SIO_000772 24439481 NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_provenance.
- NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_assertion evidence source_evidence_literature NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_provenance.
- NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_assertion description "[We present the first case of an ALS patient carrying a de novo nonsense mutation in exon 14 of the FUS gene (c.1483c>t; p.R495X) with an apparently familial ALS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_provenance.