Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP655498.RAPM3uXwXkr1Cmfd4lvn4QGJEzmb22IiwpzRhQJARg2OI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP655498.RAPM3uXwXkr1Cmfd4lvn4QGJEzmb22IiwpzRhQJARg2OI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP655498.RAPM3uXwXkr1Cmfd4lvn4QGJEzmb22IiwpzRhQJARg2OI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP655498.RAPM3uXwXkr1Cmfd4lvn4QGJEzmb22IiwpzRhQJARg2OI130_provenance.
- NP655498.RAPM3uXwXkr1Cmfd4lvn4QGJEzmb22IiwpzRhQJARg2OI130_assertion description "[This report describes the first putative mutations, p.L70P and p.R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP655498.RAPM3uXwXkr1Cmfd4lvn4QGJEzmb22IiwpzRhQJARg2OI130_provenance.
- NP655498.RAPM3uXwXkr1Cmfd4lvn4QGJEzmb22IiwpzRhQJARg2OI130_assertion evidence source_evidence_literature NP655498.RAPM3uXwXkr1Cmfd4lvn4QGJEzmb22IiwpzRhQJARg2OI130_provenance.
- NP655498.RAPM3uXwXkr1Cmfd4lvn4QGJEzmb22IiwpzRhQJARg2OI130_assertion SIO_000772 19304569 NP655498.RAPM3uXwXkr1Cmfd4lvn4QGJEzmb22IiwpzRhQJARg2OI130_provenance.
- NP655498.RAPM3uXwXkr1Cmfd4lvn4QGJEzmb22IiwpzRhQJARg2OI130_assertion wasDerivedFrom befree-20140225 NP655498.RAPM3uXwXkr1Cmfd4lvn4QGJEzmb22IiwpzRhQJARg2OI130_provenance.
- NP655498.RAPM3uXwXkr1Cmfd4lvn4QGJEzmb22IiwpzRhQJARg2OI130_assertion wasGeneratedBy ECO_0000203 NP655498.RAPM3uXwXkr1Cmfd4lvn4QGJEzmb22IiwpzRhQJARg2OI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP655498.RAPM3uXwXkr1Cmfd4lvn4QGJEzmb22IiwpzRhQJARg2OI130_provenance.