Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP404504.RAVW2Z_EiziiSgucS9m5ZHRqsyvGS5lngwOjaHb10-BSk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP404504.RAVW2Z_EiziiSgucS9m5ZHRqsyvGS5lngwOjaHb10-BSk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP404504.RAVW2Z_EiziiSgucS9m5ZHRqsyvGS5lngwOjaHb10-BSk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP404504.RAVW2Z_EiziiSgucS9m5ZHRqsyvGS5lngwOjaHb10-BSk130_provenance.
- NP404504.RAVW2Z_EiziiSgucS9m5ZHRqsyvGS5lngwOjaHb10-BSk130_assertion description "[After screening for mutations in PAX6, CYP1B1, and FOXC1, a novel FOXC1 W152G mutation was identified in a newborn boy with aniridia and congenital glaucoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP404504.RAVW2Z_EiziiSgucS9m5ZHRqsyvGS5lngwOjaHb10-BSk130_provenance.
- NP404504.RAVW2Z_EiziiSgucS9m5ZHRqsyvGS5lngwOjaHb10-BSk130_assertion evidence source_evidence_literature NP404504.RAVW2Z_EiziiSgucS9m5ZHRqsyvGS5lngwOjaHb10-BSk130_provenance.
- NP404504.RAVW2Z_EiziiSgucS9m5ZHRqsyvGS5lngwOjaHb10-BSk130_assertion SIO_000772 19279310 NP404504.RAVW2Z_EiziiSgucS9m5ZHRqsyvGS5lngwOjaHb10-BSk130_provenance.
- NP404504.RAVW2Z_EiziiSgucS9m5ZHRqsyvGS5lngwOjaHb10-BSk130_assertion wasDerivedFrom befree-20150227 NP404504.RAVW2Z_EiziiSgucS9m5ZHRqsyvGS5lngwOjaHb10-BSk130_provenance.
- NP404504.RAVW2Z_EiziiSgucS9m5ZHRqsyvGS5lngwOjaHb10-BSk130_assertion wasGeneratedBy ECO_0000203 NP404504.RAVW2Z_EiziiSgucS9m5ZHRqsyvGS5lngwOjaHb10-BSk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP404504.RAVW2Z_EiziiSgucS9m5ZHRqsyvGS5lngwOjaHb10-BSk130_provenance.