Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP316594.RAvgFg37G47rl8uYY66XsiVsX0a1BaCE_hGRHClP-VCdc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP316594.RAvgFg37G47rl8uYY66XsiVsX0a1BaCE_hGRHClP-VCdc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP316594.RAvgFg37G47rl8uYY66XsiVsX0a1BaCE_hGRHClP-VCdc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP316594.RAvgFg37G47rl8uYY66XsiVsX0a1BaCE_hGRHClP-VCdc130_provenance.
- NP316594.RAvgFg37G47rl8uYY66XsiVsX0a1BaCE_hGRHClP-VCdc130_assertion description "[Exon deletion in the non-catalytic domain of eIF2Bepsilon due to a splice site mutation leads to infantile forms of CACH/VWM with severe decrease of eIF2B GEF activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP316594.RAvgFg37G47rl8uYY66XsiVsX0a1BaCE_hGRHClP-VCdc130_provenance.
- NP316594.RAvgFg37G47rl8uYY66XsiVsX0a1BaCE_hGRHClP-VCdc130_assertion evidence source_evidence_literature NP316594.RAvgFg37G47rl8uYY66XsiVsX0a1BaCE_hGRHClP-VCdc130_provenance.
- NP316594.RAvgFg37G47rl8uYY66XsiVsX0a1BaCE_hGRHClP-VCdc130_assertion SIO_000772 18294360 NP316594.RAvgFg37G47rl8uYY66XsiVsX0a1BaCE_hGRHClP-VCdc130_provenance.
- NP316594.RAvgFg37G47rl8uYY66XsiVsX0a1BaCE_hGRHClP-VCdc130_assertion wasDerivedFrom befree-20140225 NP316594.RAvgFg37G47rl8uYY66XsiVsX0a1BaCE_hGRHClP-VCdc130_provenance.
- NP316594.RAvgFg37G47rl8uYY66XsiVsX0a1BaCE_hGRHClP-VCdc130_assertion wasGeneratedBy ECO_0000203 NP316594.RAvgFg37G47rl8uYY66XsiVsX0a1BaCE_hGRHClP-VCdc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP316594.RAvgFg37G47rl8uYY66XsiVsX0a1BaCE_hGRHClP-VCdc130_provenance.