Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP185244.RA1j1cZj6UunVy9Hqf81nyghlJUIVxM9jN0RTpyIP0bg4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP185244.RA1j1cZj6UunVy9Hqf81nyghlJUIVxM9jN0RTpyIP0bg4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP185244.RA1j1cZj6UunVy9Hqf81nyghlJUIVxM9jN0RTpyIP0bg4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP185244.RA1j1cZj6UunVy9Hqf81nyghlJUIVxM9jN0RTpyIP0bg4130_provenance.
- NP185244.RA1j1cZj6UunVy9Hqf81nyghlJUIVxM9jN0RTpyIP0bg4130_assertion description "[SOD1 glycine93aspartate mutation, found in DNA extracted from the hair bulbs in two deceased obligate carriers, causes a slowly developing lower motor neuron disease with a reduced penetrance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP185244.RA1j1cZj6UunVy9Hqf81nyghlJUIVxM9jN0RTpyIP0bg4130_provenance.
- NP185244.RA1j1cZj6UunVy9Hqf81nyghlJUIVxM9jN0RTpyIP0bg4130_assertion evidence source_evidence_literature NP185244.RA1j1cZj6UunVy9Hqf81nyghlJUIVxM9jN0RTpyIP0bg4130_provenance.
- NP185244.RA1j1cZj6UunVy9Hqf81nyghlJUIVxM9jN0RTpyIP0bg4130_assertion SIO_000772 18273717 NP185244.RA1j1cZj6UunVy9Hqf81nyghlJUIVxM9jN0RTpyIP0bg4130_provenance.
- NP185244.RA1j1cZj6UunVy9Hqf81nyghlJUIVxM9jN0RTpyIP0bg4130_assertion wasDerivedFrom lhgdn-20090331 NP185244.RA1j1cZj6UunVy9Hqf81nyghlJUIVxM9jN0RTpyIP0bg4130_provenance.
- NP185244.RA1j1cZj6UunVy9Hqf81nyghlJUIVxM9jN0RTpyIP0bg4130_assertion wasGeneratedBy ECO_0000203 NP185244.RA1j1cZj6UunVy9Hqf81nyghlJUIVxM9jN0RTpyIP0bg4130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP185244.RA1j1cZj6UunVy9Hqf81nyghlJUIVxM9jN0RTpyIP0bg4130_provenance.