Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP972504.RACMsISQXoVROGKgYuxS_vLIxJT26d8mlKZS64cqdgi3Y#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 16543359 provenance.
- assertion evidence source_evidence_literature provenance.
- 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." provenance.