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- source_evidence_literature type ECO_0000212 NP641151.RAc64SHeJ-bOQHsS8-Hxjpv0gdVDNzyfquwQ1xTdQHTxU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP641151.RAc64SHeJ-bOQHsS8-Hxjpv0gdVDNzyfquwQ1xTdQHTxU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP641151.RAc64SHeJ-bOQHsS8-Hxjpv0gdVDNzyfquwQ1xTdQHTxU130_provenance.
- NP641151.RAc64SHeJ-bOQHsS8-Hxjpv0gdVDNzyfquwQ1xTdQHTxU130_assertion description "[Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP641151.RAc64SHeJ-bOQHsS8-Hxjpv0gdVDNzyfquwQ1xTdQHTxU130_provenance.
- NP641151.RAc64SHeJ-bOQHsS8-Hxjpv0gdVDNzyfquwQ1xTdQHTxU130_assertion evidence source_evidence_literature NP641151.RAc64SHeJ-bOQHsS8-Hxjpv0gdVDNzyfquwQ1xTdQHTxU130_provenance.
- NP641151.RAc64SHeJ-bOQHsS8-Hxjpv0gdVDNzyfquwQ1xTdQHTxU130_assertion SIO_000772 18024811 NP641151.RAc64SHeJ-bOQHsS8-Hxjpv0gdVDNzyfquwQ1xTdQHTxU130_provenance.
- NP641151.RAc64SHeJ-bOQHsS8-Hxjpv0gdVDNzyfquwQ1xTdQHTxU130_assertion wasDerivedFrom befree-2016 NP641151.RAc64SHeJ-bOQHsS8-Hxjpv0gdVDNzyfquwQ1xTdQHTxU130_provenance.
- NP641151.RAc64SHeJ-bOQHsS8-Hxjpv0gdVDNzyfquwQ1xTdQHTxU130_assertion wasGeneratedBy ECO_0000203 NP641151.RAc64SHeJ-bOQHsS8-Hxjpv0gdVDNzyfquwQ1xTdQHTxU130_provenance.
- befree-2016 importedOn "2016-02-19" NP641151.RAc64SHeJ-bOQHsS8-Hxjpv0gdVDNzyfquwQ1xTdQHTxU130_provenance.