Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_provenance.
- NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_assertion wasGeneratedBy ECO_0000203 NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_provenance.
- NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_assertion wasDerivedFrom befree-2016 NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_provenance.
- NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_assertion SIO_000772 25031760 NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_provenance.
- NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_assertion evidence source_evidence_literature NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_provenance.
- NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_assertion description "[In the present case, the defect EIF2B2 caused by hemizygosity may be related to early onset of the disease and the unusual pathological changes with vulnerability of oligodendrocytes and astrocytes, as well as cardiac abnormalities and sudden unexpected death.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_provenance.