Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP641893.RAATG4apDMwqys8WRZZsV6fTkNO23RlZKLKQBgXCaCOaE130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP641893.RAATG4apDMwqys8WRZZsV6fTkNO23RlZKLKQBgXCaCOaE130_assertion type Assertion NP641893.RAATG4apDMwqys8WRZZsV6fTkNO23RlZKLKQBgXCaCOaE130_head.
- 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.