Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1033730.RABKbr8JFJz5r7V7q6PvJMVwf0QtYM9c2PzIWQXr7wspc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1033730.RABKbr8JFJz5r7V7q6PvJMVwf0QtYM9c2PzIWQXr7wspc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1033730.RABKbr8JFJz5r7V7q6PvJMVwf0QtYM9c2PzIWQXr7wspc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1033730.RABKbr8JFJz5r7V7q6PvJMVwf0QtYM9c2PzIWQXr7wspc130_provenance.
- NP1033730.RABKbr8JFJz5r7V7q6PvJMVwf0QtYM9c2PzIWQXr7wspc130_assertion description "[Using a 13-day sequence and analysis pipeline, we discovered direct disruption of CHD7, a causal locus in the CHARGE syndrome (coloboma of the eye, heart anomaly, atresia of the choanae, retardation, and genital and ear anomalies).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1033730.RABKbr8JFJz5r7V7q6PvJMVwf0QtYM9c2PzIWQXr7wspc130_provenance.
- NP1033730.RABKbr8JFJz5r7V7q6PvJMVwf0QtYM9c2PzIWQXr7wspc130_assertion evidence source_evidence_literature NP1033730.RABKbr8JFJz5r7V7q6PvJMVwf0QtYM9c2PzIWQXr7wspc130_provenance.
- NP1033730.RABKbr8JFJz5r7V7q6PvJMVwf0QtYM9c2PzIWQXr7wspc130_assertion SIO_000772 23215558 NP1033730.RABKbr8JFJz5r7V7q6PvJMVwf0QtYM9c2PzIWQXr7wspc130_provenance.
- NP1033730.RABKbr8JFJz5r7V7q6PvJMVwf0QtYM9c2PzIWQXr7wspc130_assertion wasDerivedFrom befree-2016 NP1033730.RABKbr8JFJz5r7V7q6PvJMVwf0QtYM9c2PzIWQXr7wspc130_provenance.
- NP1033730.RABKbr8JFJz5r7V7q6PvJMVwf0QtYM9c2PzIWQXr7wspc130_assertion wasGeneratedBy ECO_0000203 NP1033730.RABKbr8JFJz5r7V7q6PvJMVwf0QtYM9c2PzIWQXr7wspc130_provenance.
- befree-2016 importedOn "2016-02-19" NP1033730.RABKbr8JFJz5r7V7q6PvJMVwf0QtYM9c2PzIWQXr7wspc130_provenance.