Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP211957.RACnE8CvT45rrswIuWeN0pF6-wQtExEgrIRWA90RPNsFc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP211957.RACnE8CvT45rrswIuWeN0pF6-wQtExEgrIRWA90RPNsFc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP211957.RACnE8CvT45rrswIuWeN0pF6-wQtExEgrIRWA90RPNsFc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP211957.RACnE8CvT45rrswIuWeN0pF6-wQtExEgrIRWA90RPNsFc130_provenance.
- NP211957.RACnE8CvT45rrswIuWeN0pF6-wQtExEgrIRWA90RPNsFc130_assertion description "[25, 14-15, 2000) identified a stop mutation (exon 6 nt 750 C --> T, Y250X) on the transferrin receptor-2 (TFR2) gene in two unrelated Sicilian families with hereditary hemochromatosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP211957.RACnE8CvT45rrswIuWeN0pF6-wQtExEgrIRWA90RPNsFc130_provenance.
- NP211957.RACnE8CvT45rrswIuWeN0pF6-wQtExEgrIRWA90RPNsFc130_assertion evidence source_evidence_literature NP211957.RACnE8CvT45rrswIuWeN0pF6-wQtExEgrIRWA90RPNsFc130_provenance.
- NP211957.RACnE8CvT45rrswIuWeN0pF6-wQtExEgrIRWA90RPNsFc130_assertion SIO_000772 11358390 NP211957.RACnE8CvT45rrswIuWeN0pF6-wQtExEgrIRWA90RPNsFc130_provenance.
- NP211957.RACnE8CvT45rrswIuWeN0pF6-wQtExEgrIRWA90RPNsFc130_assertion wasDerivedFrom befree-20140225 NP211957.RACnE8CvT45rrswIuWeN0pF6-wQtExEgrIRWA90RPNsFc130_provenance.
- NP211957.RACnE8CvT45rrswIuWeN0pF6-wQtExEgrIRWA90RPNsFc130_assertion wasGeneratedBy ECO_0000203 NP211957.RACnE8CvT45rrswIuWeN0pF6-wQtExEgrIRWA90RPNsFc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP211957.RACnE8CvT45rrswIuWeN0pF6-wQtExEgrIRWA90RPNsFc130_provenance.