Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP406953.RAVKkwJVKIVp8IsD55TAvHfZu74wDkFht8iH7XWYIwEQ0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP406953.RAVKkwJVKIVp8IsD55TAvHfZu74wDkFht8iH7XWYIwEQ0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP406953.RAVKkwJVKIVp8IsD55TAvHfZu74wDkFht8iH7XWYIwEQ0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP406953.RAVKkwJVKIVp8IsD55TAvHfZu74wDkFht8iH7XWYIwEQ0130_provenance.
- NP406953.RAVKkwJVKIVp8IsD55TAvHfZu74wDkFht8iH7XWYIwEQ0130_assertion description "[This study describes a novel ADVIRC mutation and show that it disrupts an exonic splice enhancer (ESE) site, altering the binding of a splicing-associated SR protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP406953.RAVKkwJVKIVp8IsD55TAvHfZu74wDkFht8iH7XWYIwEQ0130_provenance.
- NP406953.RAVKkwJVKIVp8IsD55TAvHfZu74wDkFht8iH7XWYIwEQ0130_assertion evidence source_evidence_literature NP406953.RAVKkwJVKIVp8IsD55TAvHfZu74wDkFht8iH7XWYIwEQ0130_provenance.
- NP406953.RAVKkwJVKIVp8IsD55TAvHfZu74wDkFht8iH7XWYIwEQ0130_assertion SIO_000772 18611979 NP406953.RAVKkwJVKIVp8IsD55TAvHfZu74wDkFht8iH7XWYIwEQ0130_provenance.
- NP406953.RAVKkwJVKIVp8IsD55TAvHfZu74wDkFht8iH7XWYIwEQ0130_assertion wasDerivedFrom befree-20140225 NP406953.RAVKkwJVKIVp8IsD55TAvHfZu74wDkFht8iH7XWYIwEQ0130_provenance.
- NP406953.RAVKkwJVKIVp8IsD55TAvHfZu74wDkFht8iH7XWYIwEQ0130_assertion wasGeneratedBy ECO_0000203 NP406953.RAVKkwJVKIVp8IsD55TAvHfZu74wDkFht8iH7XWYIwEQ0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP406953.RAVKkwJVKIVp8IsD55TAvHfZu74wDkFht8iH7XWYIwEQ0130_provenance.