Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP176447.RA-ryT70NSnBWxA4B-iC1aSMW4xLJGCSDLXGNE0jjFyBc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP176447.RA-ryT70NSnBWxA4B-iC1aSMW4xLJGCSDLXGNE0jjFyBc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP176447.RA-ryT70NSnBWxA4B-iC1aSMW4xLJGCSDLXGNE0jjFyBc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP176447.RA-ryT70NSnBWxA4B-iC1aSMW4xLJGCSDLXGNE0jjFyBc130_provenance.
- NP176447.RA-ryT70NSnBWxA4B-iC1aSMW4xLJGCSDLXGNE0jjFyBc130_assertion description "[Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP176447.RA-ryT70NSnBWxA4B-iC1aSMW4xLJGCSDLXGNE0jjFyBc130_provenance.
- NP176447.RA-ryT70NSnBWxA4B-iC1aSMW4xLJGCSDLXGNE0jjFyBc130_assertion evidence source_evidence_literature NP176447.RA-ryT70NSnBWxA4B-iC1aSMW4xLJGCSDLXGNE0jjFyBc130_provenance.
- NP176447.RA-ryT70NSnBWxA4B-iC1aSMW4xLJGCSDLXGNE0jjFyBc130_assertion SIO_000772 15952107 NP176447.RA-ryT70NSnBWxA4B-iC1aSMW4xLJGCSDLXGNE0jjFyBc130_provenance.
- NP176447.RA-ryT70NSnBWxA4B-iC1aSMW4xLJGCSDLXGNE0jjFyBc130_assertion wasDerivedFrom befree-20140225 NP176447.RA-ryT70NSnBWxA4B-iC1aSMW4xLJGCSDLXGNE0jjFyBc130_provenance.
- NP176447.RA-ryT70NSnBWxA4B-iC1aSMW4xLJGCSDLXGNE0jjFyBc130_assertion wasGeneratedBy ECO_0000203 NP176447.RA-ryT70NSnBWxA4B-iC1aSMW4xLJGCSDLXGNE0jjFyBc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP176447.RA-ryT70NSnBWxA4B-iC1aSMW4xLJGCSDLXGNE0jjFyBc130_provenance.