Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP460158.RAVHm2WIsS5d7sf3REI9z2eWGFj4FpHymojQ9F83-PEdg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP460158.RAVHm2WIsS5d7sf3REI9z2eWGFj4FpHymojQ9F83-PEdg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP460158.RAVHm2WIsS5d7sf3REI9z2eWGFj4FpHymojQ9F83-PEdg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP460158.RAVHm2WIsS5d7sf3REI9z2eWGFj4FpHymojQ9F83-PEdg130_provenance.
- NP460158.RAVHm2WIsS5d7sf3REI9z2eWGFj4FpHymojQ9F83-PEdg130_assertion description "[All six patients were found to have heterozygous TRPV4 mutations; three patients had unreported mutations, while three patients had mutations previously described in association with metatropic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP460158.RAVHm2WIsS5d7sf3REI9z2eWGFj4FpHymojQ9F83-PEdg130_provenance.
- NP460158.RAVHm2WIsS5d7sf3REI9z2eWGFj4FpHymojQ9F83-PEdg130_assertion evidence source_evidence_literature NP460158.RAVHm2WIsS5d7sf3REI9z2eWGFj4FpHymojQ9F83-PEdg130_provenance.
- NP460158.RAVHm2WIsS5d7sf3REI9z2eWGFj4FpHymojQ9F83-PEdg130_assertion SIO_000772 20503319 NP460158.RAVHm2WIsS5d7sf3REI9z2eWGFj4FpHymojQ9F83-PEdg130_provenance.
- NP460158.RAVHm2WIsS5d7sf3REI9z2eWGFj4FpHymojQ9F83-PEdg130_assertion wasDerivedFrom befree-20140225 NP460158.RAVHm2WIsS5d7sf3REI9z2eWGFj4FpHymojQ9F83-PEdg130_provenance.
- NP460158.RAVHm2WIsS5d7sf3REI9z2eWGFj4FpHymojQ9F83-PEdg130_assertion wasGeneratedBy ECO_0000203 NP460158.RAVHm2WIsS5d7sf3REI9z2eWGFj4FpHymojQ9F83-PEdg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP460158.RAVHm2WIsS5d7sf3REI9z2eWGFj4FpHymojQ9F83-PEdg130_provenance.