Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_provenance.
- NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_assertion description "[Recently, RECQL4 was identified as the gene responsible for some cases of Rothmund-Thomson syndrome (RTS), a rare autosomal recessive genetic disorder that shows chromosomal instability, premature aging, and a high risk of mesenchymal tumors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_provenance.
- NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_assertion evidence source_evidence_literature NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_provenance.
- NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_assertion SIO_000772 10552928 NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_provenance.
- NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_assertion wasDerivedFrom befree-20140225 NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_provenance.
- NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_assertion wasGeneratedBy ECO_0000203 NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_provenance.