Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP47735.RAG3vw0UFkx_JwDGWziVNHsYDuRqRbC-A3GrU2h7tJ0yo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP47735.RAG3vw0UFkx_JwDGWziVNHsYDuRqRbC-A3GrU2h7tJ0yo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP47735.RAG3vw0UFkx_JwDGWziVNHsYDuRqRbC-A3GrU2h7tJ0yo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP47735.RAG3vw0UFkx_JwDGWziVNHsYDuRqRbC-A3GrU2h7tJ0yo130_provenance.
- NP47735.RAG3vw0UFkx_JwDGWziVNHsYDuRqRbC-A3GrU2h7tJ0yo130_assertion wasGeneratedBy ECO_0000203 NP47735.RAG3vw0UFkx_JwDGWziVNHsYDuRqRbC-A3GrU2h7tJ0yo130_provenance.
- NP47735.RAG3vw0UFkx_JwDGWziVNHsYDuRqRbC-A3GrU2h7tJ0yo130_assertion wasDerivedFrom gad-20130706 NP47735.RAG3vw0UFkx_JwDGWziVNHsYDuRqRbC-A3GrU2h7tJ0yo130_provenance.
- NP47735.RAG3vw0UFkx_JwDGWziVNHsYDuRqRbC-A3GrU2h7tJ0yo130_assertion SIO_000772 12830434 NP47735.RAG3vw0UFkx_JwDGWziVNHsYDuRqRbC-A3GrU2h7tJ0yo130_provenance.
- NP47735.RAG3vw0UFkx_JwDGWziVNHsYDuRqRbC-A3GrU2h7tJ0yo130_assertion evidence source_evidence_literature NP47735.RAG3vw0UFkx_JwDGWziVNHsYDuRqRbC-A3GrU2h7tJ0yo130_provenance.
- NP47735.RAG3vw0UFkx_JwDGWziVNHsYDuRqRbC-A3GrU2h7tJ0yo130_assertion description "[DNA sequencing revealed two JME-associated SNP variants in the BRD2 (RING3) promoter region but no other potentially causative coding mutations in 20 probands from families with positive LOD scores.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP47735.RAG3vw0UFkx_JwDGWziVNHsYDuRqRbC-A3GrU2h7tJ0yo130_provenance.
- gad-20130706 importedOn "2013-07-06" NP47735.RAG3vw0UFkx_JwDGWziVNHsYDuRqRbC-A3GrU2h7tJ0yo130_provenance.