Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP700240.RAYYrIJD6bYcPTpDzkwjeX8pg3Shkd3RameUWC6s5rOFk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP700240.RAYYrIJD6bYcPTpDzkwjeX8pg3Shkd3RameUWC6s5rOFk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP700240.RAYYrIJD6bYcPTpDzkwjeX8pg3Shkd3RameUWC6s5rOFk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP700240.RAYYrIJD6bYcPTpDzkwjeX8pg3Shkd3RameUWC6s5rOFk130_provenance.
- NP700240.RAYYrIJD6bYcPTpDzkwjeX8pg3Shkd3RameUWC6s5rOFk130_assertion wasGeneratedBy ECO_0000203 NP700240.RAYYrIJD6bYcPTpDzkwjeX8pg3Shkd3RameUWC6s5rOFk130_provenance.
- NP700240.RAYYrIJD6bYcPTpDzkwjeX8pg3Shkd3RameUWC6s5rOFk130_assertion wasDerivedFrom befree-20140225 NP700240.RAYYrIJD6bYcPTpDzkwjeX8pg3Shkd3RameUWC6s5rOFk130_provenance.
- NP700240.RAYYrIJD6bYcPTpDzkwjeX8pg3Shkd3RameUWC6s5rOFk130_assertion SIO_000772 16237566 NP700240.RAYYrIJD6bYcPTpDzkwjeX8pg3Shkd3RameUWC6s5rOFk130_provenance.
- NP700240.RAYYrIJD6bYcPTpDzkwjeX8pg3Shkd3RameUWC6s5rOFk130_assertion evidence source_evidence_literature NP700240.RAYYrIJD6bYcPTpDzkwjeX8pg3Shkd3RameUWC6s5rOFk130_provenance.
- NP700240.RAYYrIJD6bYcPTpDzkwjeX8pg3Shkd3RameUWC6s5rOFk130_assertion description "[For SMARCAL1 mutations a clear genotype-phenotype correlation has been reported: severe SIOD with in utero or early-childhood onset leading to end-stage renal disease within a few years is caused by nonsense, frame shift or splice mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP700240.RAYYrIJD6bYcPTpDzkwjeX8pg3Shkd3RameUWC6s5rOFk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP700240.RAYYrIJD6bYcPTpDzkwjeX8pg3Shkd3RameUWC6s5rOFk130_provenance.