Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP631982.RAedVJzAOzAeY_O9sy-5PyzAnognTeGyr4YJaaYhF-x1w130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP631982.RAedVJzAOzAeY_O9sy-5PyzAnognTeGyr4YJaaYhF-x1w130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP631982.RAedVJzAOzAeY_O9sy-5PyzAnognTeGyr4YJaaYhF-x1w130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP631982.RAedVJzAOzAeY_O9sy-5PyzAnognTeGyr4YJaaYhF-x1w130_provenance.
- NP631982.RAedVJzAOzAeY_O9sy-5PyzAnognTeGyr4YJaaYhF-x1w130_assertion description "[FLNA mutations were found in 100% of familial cases with X-linked PNH (10 families: 8 with classical bilateral PNH, 1 with EDS and 1 with unilateral PH) and in 26% of sporadic patients with classical bilateral PNH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP631982.RAedVJzAOzAeY_O9sy-5PyzAnognTeGyr4YJaaYhF-x1w130_provenance.
- NP631982.RAedVJzAOzAeY_O9sy-5PyzAnognTeGyr4YJaaYhF-x1w130_assertion evidence source_evidence_literature NP631982.RAedVJzAOzAeY_O9sy-5PyzAnognTeGyr4YJaaYhF-x1w130_provenance.
- NP631982.RAedVJzAOzAeY_O9sy-5PyzAnognTeGyr4YJaaYhF-x1w130_assertion SIO_000772 16684786 NP631982.RAedVJzAOzAeY_O9sy-5PyzAnognTeGyr4YJaaYhF-x1w130_provenance.
- NP631982.RAedVJzAOzAeY_O9sy-5PyzAnognTeGyr4YJaaYhF-x1w130_assertion wasDerivedFrom befree-20140225 NP631982.RAedVJzAOzAeY_O9sy-5PyzAnognTeGyr4YJaaYhF-x1w130_provenance.
- NP631982.RAedVJzAOzAeY_O9sy-5PyzAnognTeGyr4YJaaYhF-x1w130_assertion wasGeneratedBy ECO_0000203 NP631982.RAedVJzAOzAeY_O9sy-5PyzAnognTeGyr4YJaaYhF-x1w130_provenance.
- befree-20140225 importedOn "2014-02-25" NP631982.RAedVJzAOzAeY_O9sy-5PyzAnognTeGyr4YJaaYhF-x1w130_provenance.