Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP724267.RA-llUd19lTXjDsbqVibiWlva9lDwJux4Y0sXVGCPCwHQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP724267.RA-llUd19lTXjDsbqVibiWlva9lDwJux4Y0sXVGCPCwHQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP724267.RA-llUd19lTXjDsbqVibiWlva9lDwJux4Y0sXVGCPCwHQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP724267.RA-llUd19lTXjDsbqVibiWlva9lDwJux4Y0sXVGCPCwHQ130_provenance.
- NP724267.RA-llUd19lTXjDsbqVibiWlva9lDwJux4Y0sXVGCPCwHQ130_assertion description "[Studying consanguineous families with Ghosal hematodiaphyseal dysplasia syndrome (GHDD), a disorder of increased bone density, we identified mutations in TBXAS1, which encodes thromboxane synthase (TXAS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP724267.RA-llUd19lTXjDsbqVibiWlva9lDwJux4Y0sXVGCPCwHQ130_provenance.
- NP724267.RA-llUd19lTXjDsbqVibiWlva9lDwJux4Y0sXVGCPCwHQ130_assertion evidence source_evidence_literature NP724267.RA-llUd19lTXjDsbqVibiWlva9lDwJux4Y0sXVGCPCwHQ130_provenance.
- NP724267.RA-llUd19lTXjDsbqVibiWlva9lDwJux4Y0sXVGCPCwHQ130_assertion SIO_000772 18264100 NP724267.RA-llUd19lTXjDsbqVibiWlva9lDwJux4Y0sXVGCPCwHQ130_provenance.
- NP724267.RA-llUd19lTXjDsbqVibiWlva9lDwJux4Y0sXVGCPCwHQ130_assertion wasDerivedFrom befree-20150227 NP724267.RA-llUd19lTXjDsbqVibiWlva9lDwJux4Y0sXVGCPCwHQ130_provenance.
- NP724267.RA-llUd19lTXjDsbqVibiWlva9lDwJux4Y0sXVGCPCwHQ130_assertion wasGeneratedBy ECO_0000203 NP724267.RA-llUd19lTXjDsbqVibiWlva9lDwJux4Y0sXVGCPCwHQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP724267.RA-llUd19lTXjDsbqVibiWlva9lDwJux4Y0sXVGCPCwHQ130_provenance.