Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_provenance.
- NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_assertion description "[Inter- and intrafamilial variability is a well-known feature of the L1CAM spectrum, and several patients have a combination of L1CAM mutations and Hirschsprung's disease (HSCR).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_provenance.
- NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_assertion evidence source_evidence_literature NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_provenance.
- NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_assertion SIO_000772 16650080 NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_provenance.
- NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_assertion wasDerivedFrom befree-20140225 NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_provenance.
- NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_assertion wasGeneratedBy ECO_0000203 NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_provenance.