Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_provenance.
- NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_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." NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_provenance.
- NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_assertion evidence source_evidence_literature NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_provenance.
- NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_assertion SIO_000772 20503319 NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_provenance.
- NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_assertion wasDerivedFrom befree-2016 NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_provenance.
- NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_assertion wasGeneratedBy ECO_0000203 NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_provenance.
- befree-2016 importedOn "2016-02-19" NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_provenance.