Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP253868.RAZI4NC5Cr6UHLD-P5GQYf3AoSPV66jdnceyuF7UgNXLs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP253868.RAZI4NC5Cr6UHLD-P5GQYf3AoSPV66jdnceyuF7UgNXLs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP253868.RAZI4NC5Cr6UHLD-P5GQYf3AoSPV66jdnceyuF7UgNXLs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP253868.RAZI4NC5Cr6UHLD-P5GQYf3AoSPV66jdnceyuF7UgNXLs130_provenance.
- NP253868.RAZI4NC5Cr6UHLD-P5GQYf3AoSPV66jdnceyuF7UgNXLs130_assertion wasGeneratedBy ECO_0000203 NP253868.RAZI4NC5Cr6UHLD-P5GQYf3AoSPV66jdnceyuF7UgNXLs130_provenance.
- NP253868.RAZI4NC5Cr6UHLD-P5GQYf3AoSPV66jdnceyuF7UgNXLs130_assertion wasDerivedFrom befree-20140225 NP253868.RAZI4NC5Cr6UHLD-P5GQYf3AoSPV66jdnceyuF7UgNXLs130_provenance.
- NP253868.RAZI4NC5Cr6UHLD-P5GQYf3AoSPV66jdnceyuF7UgNXLs130_assertion SIO_000772 21257638 NP253868.RAZI4NC5Cr6UHLD-P5GQYf3AoSPV66jdnceyuF7UgNXLs130_provenance.
- NP253868.RAZI4NC5Cr6UHLD-P5GQYf3AoSPV66jdnceyuF7UgNXLs130_assertion evidence source_evidence_literature NP253868.RAZI4NC5Cr6UHLD-P5GQYf3AoSPV66jdnceyuF7UgNXLs130_provenance.
- NP253868.RAZI4NC5Cr6UHLD-P5GQYf3AoSPV66jdnceyuF7UgNXLs130_assertion description "[The gene coding for centrosomal protein 290 (CEP290), a large multidomain protein, is the most frequently mutated gene underlying the non-syndromic blinding disorder Leber's congenital amaurosis (LCA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP253868.RAZI4NC5Cr6UHLD-P5GQYf3AoSPV66jdnceyuF7UgNXLs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP253868.RAZI4NC5Cr6UHLD-P5GQYf3AoSPV66jdnceyuF7UgNXLs130_provenance.