Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP700616.RAMue4YMMFWVuc9bK6US02_TAwD9nHgXILw8YQXhYReL0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP700616.RAMue4YMMFWVuc9bK6US02_TAwD9nHgXILw8YQXhYReL0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP700616.RAMue4YMMFWVuc9bK6US02_TAwD9nHgXILw8YQXhYReL0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP700616.RAMue4YMMFWVuc9bK6US02_TAwD9nHgXILw8YQXhYReL0130_provenance.
- NP700616.RAMue4YMMFWVuc9bK6US02_TAwD9nHgXILw8YQXhYReL0130_assertion description "[The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP700616.RAMue4YMMFWVuc9bK6US02_TAwD9nHgXILw8YQXhYReL0130_provenance.
- NP700616.RAMue4YMMFWVuc9bK6US02_TAwD9nHgXILw8YQXhYReL0130_assertion evidence source_evidence_literature NP700616.RAMue4YMMFWVuc9bK6US02_TAwD9nHgXILw8YQXhYReL0130_provenance.
- NP700616.RAMue4YMMFWVuc9bK6US02_TAwD9nHgXILw8YQXhYReL0130_assertion SIO_000772 14733962 NP700616.RAMue4YMMFWVuc9bK6US02_TAwD9nHgXILw8YQXhYReL0130_provenance.
- NP700616.RAMue4YMMFWVuc9bK6US02_TAwD9nHgXILw8YQXhYReL0130_assertion wasDerivedFrom befree-20140225 NP700616.RAMue4YMMFWVuc9bK6US02_TAwD9nHgXILw8YQXhYReL0130_provenance.
- NP700616.RAMue4YMMFWVuc9bK6US02_TAwD9nHgXILw8YQXhYReL0130_assertion wasGeneratedBy ECO_0000203 NP700616.RAMue4YMMFWVuc9bK6US02_TAwD9nHgXILw8YQXhYReL0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP700616.RAMue4YMMFWVuc9bK6US02_TAwD9nHgXILw8YQXhYReL0130_provenance.