Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP282051.RAQSGr3ww_O15wZLZouMf1Mkr6L00gF4C3THM5CD9ZDMA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP282051.RAQSGr3ww_O15wZLZouMf1Mkr6L00gF4C3THM5CD9ZDMA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP282051.RAQSGr3ww_O15wZLZouMf1Mkr6L00gF4C3THM5CD9ZDMA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP282051.RAQSGr3ww_O15wZLZouMf1Mkr6L00gF4C3THM5CD9ZDMA130_provenance.
- NP282051.RAQSGr3ww_O15wZLZouMf1Mkr6L00gF4C3THM5CD9ZDMA130_assertion description "[Specifically, we detected pathogenic DNA variants (?50% novel mutations) in the genes RP1, USH2A, CNGB3, NMNAT1, CHM, and ABCA4, responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP282051.RAQSGr3ww_O15wZLZouMf1Mkr6L00gF4C3THM5CD9ZDMA130_provenance.
- NP282051.RAQSGr3ww_O15wZLZouMf1Mkr6L00gF4C3THM5CD9ZDMA130_assertion evidence source_evidence_literature NP282051.RAQSGr3ww_O15wZLZouMf1Mkr6L00gF4C3THM5CD9ZDMA130_provenance.
- NP282051.RAQSGr3ww_O15wZLZouMf1Mkr6L00gF4C3THM5CD9ZDMA130_assertion SIO_000772 23940504 NP282051.RAQSGr3ww_O15wZLZouMf1Mkr6L00gF4C3THM5CD9ZDMA130_provenance.
- NP282051.RAQSGr3ww_O15wZLZouMf1Mkr6L00gF4C3THM5CD9ZDMA130_assertion wasDerivedFrom befree-20140225 NP282051.RAQSGr3ww_O15wZLZouMf1Mkr6L00gF4C3THM5CD9ZDMA130_provenance.
- NP282051.RAQSGr3ww_O15wZLZouMf1Mkr6L00gF4C3THM5CD9ZDMA130_assertion wasGeneratedBy ECO_0000203 NP282051.RAQSGr3ww_O15wZLZouMf1Mkr6L00gF4C3THM5CD9ZDMA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP282051.RAQSGr3ww_O15wZLZouMf1Mkr6L00gF4C3THM5CD9ZDMA130_provenance.