Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_provenance.
- NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_assertion description "[Mutation profiling of positional-candidate genes detected a heterozygous, noncoding G-to-T transversion (c.-168G>T) located in the iron response element (IRE) of the gene coding for ferritin light chain (FTL) that cosegregated with cataract in the family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_provenance.
- NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_assertion evidence source_evidence_literature NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_provenance.
- NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_assertion SIO_000772 23592921 NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_provenance.
- NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_assertion wasDerivedFrom befree-20150227 NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_provenance.
- NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_assertion wasGeneratedBy ECO_0000203 NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_provenance.
- befree-20150227 importedOn "2015-02-27" NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_provenance.