Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP463493.RAy8uWoztQ3nj6-jCuuST36SrX4sUb4WU0t0smH2PNViU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP463493.RAy8uWoztQ3nj6-jCuuST36SrX4sUb4WU0t0smH2PNViU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP463493.RAy8uWoztQ3nj6-jCuuST36SrX4sUb4WU0t0smH2PNViU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP463493.RAy8uWoztQ3nj6-jCuuST36SrX4sUb4WU0t0smH2PNViU130_provenance.
- NP463493.RAy8uWoztQ3nj6-jCuuST36SrX4sUb4WU0t0smH2PNViU130_assertion description "[A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP463493.RAy8uWoztQ3nj6-jCuuST36SrX4sUb4WU0t0smH2PNViU130_provenance.
- NP463493.RAy8uWoztQ3nj6-jCuuST36SrX4sUb4WU0t0smH2PNViU130_assertion evidence source_evidence_literature NP463493.RAy8uWoztQ3nj6-jCuuST36SrX4sUb4WU0t0smH2PNViU130_provenance.
- NP463493.RAy8uWoztQ3nj6-jCuuST36SrX4sUb4WU0t0smH2PNViU130_assertion SIO_000772 15471865 NP463493.RAy8uWoztQ3nj6-jCuuST36SrX4sUb4WU0t0smH2PNViU130_provenance.
- NP463493.RAy8uWoztQ3nj6-jCuuST36SrX4sUb4WU0t0smH2PNViU130_assertion wasDerivedFrom befree-2016 NP463493.RAy8uWoztQ3nj6-jCuuST36SrX4sUb4WU0t0smH2PNViU130_provenance.
- NP463493.RAy8uWoztQ3nj6-jCuuST36SrX4sUb4WU0t0smH2PNViU130_assertion wasGeneratedBy ECO_0000203 NP463493.RAy8uWoztQ3nj6-jCuuST36SrX4sUb4WU0t0smH2PNViU130_provenance.
- befree-2016 importedOn "2016-02-19" NP463493.RAy8uWoztQ3nj6-jCuuST36SrX4sUb4WU0t0smH2PNViU130_provenance.