Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP641893.RAATG4apDMwqys8WRZZsV6fTkNO23RlZKLKQBgXCaCOaE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP641893.RAATG4apDMwqys8WRZZsV6fTkNO23RlZKLKQBgXCaCOaE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP641893.RAATG4apDMwqys8WRZZsV6fTkNO23RlZKLKQBgXCaCOaE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP641893.RAATG4apDMwqys8WRZZsV6fTkNO23RlZKLKQBgXCaCOaE130_provenance.
- NP641893.RAATG4apDMwqys8WRZZsV6fTkNO23RlZKLKQBgXCaCOaE130_assertion description "[Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate/bifid uvula, hypertelorism, congenital heart defects, arterial tortuosity, and mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP641893.RAATG4apDMwqys8WRZZsV6fTkNO23RlZKLKQBgXCaCOaE130_provenance.
- NP641893.RAATG4apDMwqys8WRZZsV6fTkNO23RlZKLKQBgXCaCOaE130_assertion evidence source_evidence_literature NP641893.RAATG4apDMwqys8WRZZsV6fTkNO23RlZKLKQBgXCaCOaE130_provenance.
- NP641893.RAATG4apDMwqys8WRZZsV6fTkNO23RlZKLKQBgXCaCOaE130_assertion SIO_000772 19542084 NP641893.RAATG4apDMwqys8WRZZsV6fTkNO23RlZKLKQBgXCaCOaE130_provenance.
- NP641893.RAATG4apDMwqys8WRZZsV6fTkNO23RlZKLKQBgXCaCOaE130_assertion wasDerivedFrom befree-20140225 NP641893.RAATG4apDMwqys8WRZZsV6fTkNO23RlZKLKQBgXCaCOaE130_provenance.
- NP641893.RAATG4apDMwqys8WRZZsV6fTkNO23RlZKLKQBgXCaCOaE130_assertion wasGeneratedBy ECO_0000203 NP641893.RAATG4apDMwqys8WRZZsV6fTkNO23RlZKLKQBgXCaCOaE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP641893.RAATG4apDMwqys8WRZZsV6fTkNO23RlZKLKQBgXCaCOaE130_provenance.