Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP515238.RAiEArVMgEReCloMkW-DF1nKeY_2cfODQn5nMpOi3QmT8130_assertion> ?p ?o ?g. }
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- NP515238.RAiEArVMgEReCloMkW-DF1nKeY_2cfODQn5nMpOi3QmT8130_assertion type Assertion NP515238.RAiEArVMgEReCloMkW-DF1nKeY_2cfODQn5nMpOi3QmT8130_head.
- NP515238.RAiEArVMgEReCloMkW-DF1nKeY_2cfODQn5nMpOi3QmT8130_assertion description "[We report a 13-year-old girl with Loeys-Dietz syndrome (LDS) caused by a known transforming growth factor beta receptor II (TGFBR2) gene mutation, who developed aortic root dilatation and saccular aneurysm of the internal carotid artery.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP515238.RAiEArVMgEReCloMkW-DF1nKeY_2cfODQn5nMpOi3QmT8130_provenance.
- NP515238.RAiEArVMgEReCloMkW-DF1nKeY_2cfODQn5nMpOi3QmT8130_assertion evidence source_evidence_literature NP515238.RAiEArVMgEReCloMkW-DF1nKeY_2cfODQn5nMpOi3QmT8130_provenance.
- NP515238.RAiEArVMgEReCloMkW-DF1nKeY_2cfODQn5nMpOi3QmT8130_assertion SIO_000772 22734312 NP515238.RAiEArVMgEReCloMkW-DF1nKeY_2cfODQn5nMpOi3QmT8130_provenance.
- NP515238.RAiEArVMgEReCloMkW-DF1nKeY_2cfODQn5nMpOi3QmT8130_assertion wasDerivedFrom befree-20140225 NP515238.RAiEArVMgEReCloMkW-DF1nKeY_2cfODQn5nMpOi3QmT8130_provenance.
- NP515238.RAiEArVMgEReCloMkW-DF1nKeY_2cfODQn5nMpOi3QmT8130_assertion wasGeneratedBy ECO_0000203 NP515238.RAiEArVMgEReCloMkW-DF1nKeY_2cfODQn5nMpOi3QmT8130_provenance.