Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP708015.RAEXDQlcYFYqXF2PatyrXe4J-n_E_1DtlQbypgQblH9Ac130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP708015.RAEXDQlcYFYqXF2PatyrXe4J-n_E_1DtlQbypgQblH9Ac130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP708015.RAEXDQlcYFYqXF2PatyrXe4J-n_E_1DtlQbypgQblH9Ac130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP708015.RAEXDQlcYFYqXF2PatyrXe4J-n_E_1DtlQbypgQblH9Ac130_provenance.
- befree-20150227 importedOn "2015-02-27" NP708015.RAEXDQlcYFYqXF2PatyrXe4J-n_E_1DtlQbypgQblH9Ac130_provenance.
- NP708015.RAEXDQlcYFYqXF2PatyrXe4J-n_E_1DtlQbypgQblH9Ac130_assertion wasGeneratedBy ECO_0000203 NP708015.RAEXDQlcYFYqXF2PatyrXe4J-n_E_1DtlQbypgQblH9Ac130_provenance.
- NP708015.RAEXDQlcYFYqXF2PatyrXe4J-n_E_1DtlQbypgQblH9Ac130_assertion wasDerivedFrom befree-20150227 NP708015.RAEXDQlcYFYqXF2PatyrXe4J-n_E_1DtlQbypgQblH9Ac130_provenance.
- NP708015.RAEXDQlcYFYqXF2PatyrXe4J-n_E_1DtlQbypgQblH9Ac130_assertion SIO_000772 16543359 NP708015.RAEXDQlcYFYqXF2PatyrXe4J-n_E_1DtlQbypgQblH9Ac130_provenance.
- NP708015.RAEXDQlcYFYqXF2PatyrXe4J-n_E_1DtlQbypgQblH9Ac130_assertion evidence source_evidence_literature NP708015.RAEXDQlcYFYqXF2PatyrXe4J-n_E_1DtlQbypgQblH9Ac130_provenance.
- NP708015.RAEXDQlcYFYqXF2PatyrXe4J-n_E_1DtlQbypgQblH9Ac130_assertion description "[SOX2 mutations are known to cause severe bilateral eye malformations but this is the first report implicating loss of function mutations in this transcription factor in oesophageal malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP708015.RAEXDQlcYFYqXF2PatyrXe4J-n_E_1DtlQbypgQblH9Ac130_provenance.