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- source_evidence_literature type ECO_0000212 NP346414.RAnErw1TNf6P4lvbD0PPgUcrt__kTjCT0eAxi0APmEJUA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP346414.RAnErw1TNf6P4lvbD0PPgUcrt__kTjCT0eAxi0APmEJUA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP346414.RAnErw1TNf6P4lvbD0PPgUcrt__kTjCT0eAxi0APmEJUA130_provenance.
- NP346414.RAnErw1TNf6P4lvbD0PPgUcrt__kTjCT0eAxi0APmEJUA130_assertion description "[In conclusion, we identified a novel nonsense mutation in the VDR gene in two patients with HVDRR and alopecia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP346414.RAnErw1TNf6P4lvbD0PPgUcrt__kTjCT0eAxi0APmEJUA130_provenance.
- NP346414.RAnErw1TNf6P4lvbD0PPgUcrt__kTjCT0eAxi0APmEJUA130_assertion evidence source_evidence_literature NP346414.RAnErw1TNf6P4lvbD0PPgUcrt__kTjCT0eAxi0APmEJUA130_provenance.
- NP346414.RAnErw1TNf6P4lvbD0PPgUcrt__kTjCT0eAxi0APmEJUA130_assertion SIO_000772 21073129 NP346414.RAnErw1TNf6P4lvbD0PPgUcrt__kTjCT0eAxi0APmEJUA130_provenance.
- NP346414.RAnErw1TNf6P4lvbD0PPgUcrt__kTjCT0eAxi0APmEJUA130_assertion wasDerivedFrom befree-20150227 NP346414.RAnErw1TNf6P4lvbD0PPgUcrt__kTjCT0eAxi0APmEJUA130_provenance.
- NP346414.RAnErw1TNf6P4lvbD0PPgUcrt__kTjCT0eAxi0APmEJUA130_assertion wasGeneratedBy ECO_0000203 NP346414.RAnErw1TNf6P4lvbD0PPgUcrt__kTjCT0eAxi0APmEJUA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP346414.RAnErw1TNf6P4lvbD0PPgUcrt__kTjCT0eAxi0APmEJUA130_provenance.