Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP590126.RA4SFb_3_hlpGbh2Zc1sjYcFp5LiPcn4F31wqFtxdnv0s130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP590126.RA4SFb_3_hlpGbh2Zc1sjYcFp5LiPcn4F31wqFtxdnv0s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP590126.RA4SFb_3_hlpGbh2Zc1sjYcFp5LiPcn4F31wqFtxdnv0s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP590126.RA4SFb_3_hlpGbh2Zc1sjYcFp5LiPcn4F31wqFtxdnv0s130_provenance.
- NP590126.RA4SFb_3_hlpGbh2Zc1sjYcFp5LiPcn4F31wqFtxdnv0s130_assertion wasGeneratedBy ECO_0000203 NP590126.RA4SFb_3_hlpGbh2Zc1sjYcFp5LiPcn4F31wqFtxdnv0s130_provenance.
- NP590126.RA4SFb_3_hlpGbh2Zc1sjYcFp5LiPcn4F31wqFtxdnv0s130_assertion wasDerivedFrom befree-20140225 NP590126.RA4SFb_3_hlpGbh2Zc1sjYcFp5LiPcn4F31wqFtxdnv0s130_provenance.
- NP590126.RA4SFb_3_hlpGbh2Zc1sjYcFp5LiPcn4F31wqFtxdnv0s130_assertion SIO_000772 21236492 NP590126.RA4SFb_3_hlpGbh2Zc1sjYcFp5LiPcn4F31wqFtxdnv0s130_provenance.
- NP590126.RA4SFb_3_hlpGbh2Zc1sjYcFp5LiPcn4F31wqFtxdnv0s130_assertion evidence source_evidence_literature NP590126.RA4SFb_3_hlpGbh2Zc1sjYcFp5LiPcn4F31wqFtxdnv0s130_provenance.
- NP590126.RA4SFb_3_hlpGbh2Zc1sjYcFp5LiPcn4F31wqFtxdnv0s130_assertion description "[To describe a novel laminin β-2 (LAMB2) mutation associated with nephrotic syndrome and severe retinal disease without microcoria in a large, multigenerational family with Pierson syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP590126.RA4SFb_3_hlpGbh2Zc1sjYcFp5LiPcn4F31wqFtxdnv0s130_provenance.
- befree-20140225 importedOn "2014-02-25" NP590126.RA4SFb_3_hlpGbh2Zc1sjYcFp5LiPcn4F31wqFtxdnv0s130_provenance.