Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP554598.RAz7vXtcDlMl0hF0Dvlj3l3dgAVTXoKFFc6QG8p5zwtHA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP554598.RAz7vXtcDlMl0hF0Dvlj3l3dgAVTXoKFFc6QG8p5zwtHA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP554598.RAz7vXtcDlMl0hF0Dvlj3l3dgAVTXoKFFc6QG8p5zwtHA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP554598.RAz7vXtcDlMl0hF0Dvlj3l3dgAVTXoKFFc6QG8p5zwtHA130_provenance.
- NP554598.RAz7vXtcDlMl0hF0Dvlj3l3dgAVTXoKFFc6QG8p5zwtHA130_assertion wasGeneratedBy ECO_0000203 NP554598.RAz7vXtcDlMl0hF0Dvlj3l3dgAVTXoKFFc6QG8p5zwtHA130_provenance.
- NP554598.RAz7vXtcDlMl0hF0Dvlj3l3dgAVTXoKFFc6QG8p5zwtHA130_assertion wasDerivedFrom befree-20140225 NP554598.RAz7vXtcDlMl0hF0Dvlj3l3dgAVTXoKFFc6QG8p5zwtHA130_provenance.
- NP554598.RAz7vXtcDlMl0hF0Dvlj3l3dgAVTXoKFFc6QG8p5zwtHA130_assertion SIO_000772 19239083 NP554598.RAz7vXtcDlMl0hF0Dvlj3l3dgAVTXoKFFc6QG8p5zwtHA130_provenance.
- NP554598.RAz7vXtcDlMl0hF0Dvlj3l3dgAVTXoKFFc6QG8p5zwtHA130_assertion evidence source_evidence_literature NP554598.RAz7vXtcDlMl0hF0Dvlj3l3dgAVTXoKFFc6QG8p5zwtHA130_provenance.
- NP554598.RAz7vXtcDlMl0hF0Dvlj3l3dgAVTXoKFFc6QG8p5zwtHA130_assertion description "[The ankyloblepharon-ectodermal defects-cleft lip and palate (Hay-Wells or AEC) and the Rapp-Hodgkin syndrome (RHS) are rare autosomal dominant ectodermal dysplasias due to mutations in the transcription factor gene P63.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP554598.RAz7vXtcDlMl0hF0Dvlj3l3dgAVTXoKFFc6QG8p5zwtHA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP554598.RAz7vXtcDlMl0hF0Dvlj3l3dgAVTXoKFFc6QG8p5zwtHA130_provenance.