Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP546791.RAN0FpGCw1hVRHlUE0DsjTjeCCW4f71ICqP6ZbaAN9Dho130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP546791.RAN0FpGCw1hVRHlUE0DsjTjeCCW4f71ICqP6ZbaAN9Dho130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP546791.RAN0FpGCw1hVRHlUE0DsjTjeCCW4f71ICqP6ZbaAN9Dho130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP546791.RAN0FpGCw1hVRHlUE0DsjTjeCCW4f71ICqP6ZbaAN9Dho130_provenance.
- befree-2016 importedOn "2016-02-19" NP546791.RAN0FpGCw1hVRHlUE0DsjTjeCCW4f71ICqP6ZbaAN9Dho130_provenance.
- NP546791.RAN0FpGCw1hVRHlUE0DsjTjeCCW4f71ICqP6ZbaAN9Dho130_assertion wasGeneratedBy ECO_0000203 NP546791.RAN0FpGCw1hVRHlUE0DsjTjeCCW4f71ICqP6ZbaAN9Dho130_provenance.
- NP546791.RAN0FpGCw1hVRHlUE0DsjTjeCCW4f71ICqP6ZbaAN9Dho130_assertion wasDerivedFrom befree-2016 NP546791.RAN0FpGCw1hVRHlUE0DsjTjeCCW4f71ICqP6ZbaAN9Dho130_provenance.
- NP546791.RAN0FpGCw1hVRHlUE0DsjTjeCCW4f71ICqP6ZbaAN9Dho130_assertion SIO_000772 16638984 NP546791.RAN0FpGCw1hVRHlUE0DsjTjeCCW4f71ICqP6ZbaAN9Dho130_provenance.
- NP546791.RAN0FpGCw1hVRHlUE0DsjTjeCCW4f71ICqP6ZbaAN9Dho130_assertion evidence source_evidence_literature NP546791.RAN0FpGCw1hVRHlUE0DsjTjeCCW4f71ICqP6ZbaAN9Dho130_provenance.
- NP546791.RAN0FpGCw1hVRHlUE0DsjTjeCCW4f71ICqP6ZbaAN9Dho130_assertion description "[In this family harboring both structural alterations, two patients who carried the GJA1 (Ala253Val) and FOXC1 (Trp152STOP) mutations developed less severe glaucoma compared with family members presenting the FOXC1 (Trp152STOP) mutation alone.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP546791.RAN0FpGCw1hVRHlUE0DsjTjeCCW4f71ICqP6ZbaAN9Dho130_provenance.