Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_provenance.
- NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_assertion description "[As a point mutation in alpha-GAL can lead to Fabry disease, we have catalogued and plotted the locations of 245 missense and nonsense mutations in the three-dimensional structure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_provenance.
- NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_assertion evidence source_evidence_literature NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_provenance.
- NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_assertion SIO_000772 15003450 NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_provenance.
- NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_assertion wasDerivedFrom befree-20140225 NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_provenance.
- NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_assertion wasGeneratedBy ECO_0000203 NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_provenance.