Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP123851.RAOERZtY0xeHrWnz3NpIGm1NJYfEKoXGCfFq3DmxHI--s130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP123851.RAOERZtY0xeHrWnz3NpIGm1NJYfEKoXGCfFq3DmxHI--s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP123851.RAOERZtY0xeHrWnz3NpIGm1NJYfEKoXGCfFq3DmxHI--s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP123851.RAOERZtY0xeHrWnz3NpIGm1NJYfEKoXGCfFq3DmxHI--s130_provenance.
- NP123851.RAOERZtY0xeHrWnz3NpIGm1NJYfEKoXGCfFq3DmxHI--s130_assertion description "[In SPTLC1, we detected a novel mutation (S331F) corresponding to a previously unknown severe and early-onset HSAN phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP123851.RAOERZtY0xeHrWnz3NpIGm1NJYfEKoXGCfFq3DmxHI--s130_provenance.
- NP123851.RAOERZtY0xeHrWnz3NpIGm1NJYfEKoXGCfFq3DmxHI--s130_assertion evidence source_evidence_literature NP123851.RAOERZtY0xeHrWnz3NpIGm1NJYfEKoXGCfFq3DmxHI--s130_provenance.
- NP123851.RAOERZtY0xeHrWnz3NpIGm1NJYfEKoXGCfFq3DmxHI--s130_assertion SIO_000772 19651702 NP123851.RAOERZtY0xeHrWnz3NpIGm1NJYfEKoXGCfFq3DmxHI--s130_provenance.
- NP123851.RAOERZtY0xeHrWnz3NpIGm1NJYfEKoXGCfFq3DmxHI--s130_assertion wasDerivedFrom gad-20150221 NP123851.RAOERZtY0xeHrWnz3NpIGm1NJYfEKoXGCfFq3DmxHI--s130_provenance.
- NP123851.RAOERZtY0xeHrWnz3NpIGm1NJYfEKoXGCfFq3DmxHI--s130_assertion wasGeneratedBy ECO_0000203 NP123851.RAOERZtY0xeHrWnz3NpIGm1NJYfEKoXGCfFq3DmxHI--s130_provenance.
- gad-20150221 importedOn "2015-02-21" NP123851.RAOERZtY0xeHrWnz3NpIGm1NJYfEKoXGCfFq3DmxHI--s130_provenance.