Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP549333.RAj7RrQADyXyJkgpCM3WFNQvgyWltL84NcAz4HA4tDEBs130_assertion> ?p ?o ?g. }
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- NP549333.RAj7RrQADyXyJkgpCM3WFNQvgyWltL84NcAz4HA4tDEBs130_assertion type Assertion NP549333.RAj7RrQADyXyJkgpCM3WFNQvgyWltL84NcAz4HA4tDEBs130_head.
- NP549333.RAj7RrQADyXyJkgpCM3WFNQvgyWltL84NcAz4HA4tDEBs130_assertion wasGeneratedBy ECO_0000203 NP549333.RAj7RrQADyXyJkgpCM3WFNQvgyWltL84NcAz4HA4tDEBs130_provenance.
- NP549333.RAj7RrQADyXyJkgpCM3WFNQvgyWltL84NcAz4HA4tDEBs130_assertion wasDerivedFrom befree-20140225 NP549333.RAj7RrQADyXyJkgpCM3WFNQvgyWltL84NcAz4HA4tDEBs130_provenance.
- NP549333.RAj7RrQADyXyJkgpCM3WFNQvgyWltL84NcAz4HA4tDEBs130_assertion SIO_000772 16543359 NP549333.RAj7RrQADyXyJkgpCM3WFNQvgyWltL84NcAz4HA4tDEBs130_provenance.
- NP549333.RAj7RrQADyXyJkgpCM3WFNQvgyWltL84NcAz4HA4tDEBs130_assertion evidence source_evidence_literature NP549333.RAj7RrQADyXyJkgpCM3WFNQvgyWltL84NcAz4HA4tDEBs130_provenance.
- NP549333.RAj7RrQADyXyJkgpCM3WFNQvgyWltL84NcAz4HA4tDEBs130_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." NP549333.RAj7RrQADyXyJkgpCM3WFNQvgyWltL84NcAz4HA4tDEBs130_provenance.