Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5699.RA2K4JwUy3dziYqt0cGcwN5h1CGgj-SQ5pGcFWfNgVPaw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5699.RA2K4JwUy3dziYqt0cGcwN5h1CGgj-SQ5pGcFWfNgVPaw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5699.RA2K4JwUy3dziYqt0cGcwN5h1CGgj-SQ5pGcFWfNgVPaw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5699.RA2K4JwUy3dziYqt0cGcwN5h1CGgj-SQ5pGcFWfNgVPaw130_provenance.
- NP5699.RA2K4JwUy3dziYqt0cGcwN5h1CGgj-SQ5pGcFWfNgVPaw130_assertion description "[Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5699.RA2K4JwUy3dziYqt0cGcwN5h1CGgj-SQ5pGcFWfNgVPaw130_provenance.
- NP5699.RA2K4JwUy3dziYqt0cGcwN5h1CGgj-SQ5pGcFWfNgVPaw130_assertion evidence source_evidence_curated NP5699.RA2K4JwUy3dziYqt0cGcwN5h1CGgj-SQ5pGcFWfNgVPaw130_provenance.
- NP5699.RA2K4JwUy3dziYqt0cGcwN5h1CGgj-SQ5pGcFWfNgVPaw130_assertion SIO_000772 19232556 NP5699.RA2K4JwUy3dziYqt0cGcwN5h1CGgj-SQ5pGcFWfNgVPaw130_provenance.
- NP5699.RA2K4JwUy3dziYqt0cGcwN5h1CGgj-SQ5pGcFWfNgVPaw130_assertion wasDerivedFrom uniprot-2016 NP5699.RA2K4JwUy3dziYqt0cGcwN5h1CGgj-SQ5pGcFWfNgVPaw130_provenance.
- NP5699.RA2K4JwUy3dziYqt0cGcwN5h1CGgj-SQ5pGcFWfNgVPaw130_assertion wasGeneratedBy ECO_0000218 NP5699.RA2K4JwUy3dziYqt0cGcwN5h1CGgj-SQ5pGcFWfNgVPaw130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP5699.RA2K4JwUy3dziYqt0cGcwN5h1CGgj-SQ5pGcFWfNgVPaw130_provenance.