Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP895985.RAF-ffkZUAMFxSwq_fTw6NPis2W07_lNv4gMfJbTExh7U130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP895985.RAF-ffkZUAMFxSwq_fTw6NPis2W07_lNv4gMfJbTExh7U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP895985.RAF-ffkZUAMFxSwq_fTw6NPis2W07_lNv4gMfJbTExh7U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP895985.RAF-ffkZUAMFxSwq_fTw6NPis2W07_lNv4gMfJbTExh7U130_provenance.
- NP895985.RAF-ffkZUAMFxSwq_fTw6NPis2W07_lNv4gMfJbTExh7U130_assertion wasGeneratedBy ECO_0000203 NP895985.RAF-ffkZUAMFxSwq_fTw6NPis2W07_lNv4gMfJbTExh7U130_provenance.
- NP895985.RAF-ffkZUAMFxSwq_fTw6NPis2W07_lNv4gMfJbTExh7U130_assertion wasDerivedFrom befree-20140225 NP895985.RAF-ffkZUAMFxSwq_fTw6NPis2W07_lNv4gMfJbTExh7U130_provenance.
- NP895985.RAF-ffkZUAMFxSwq_fTw6NPis2W07_lNv4gMfJbTExh7U130_assertion SIO_000772 15054843 NP895985.RAF-ffkZUAMFxSwq_fTw6NPis2W07_lNv4gMfJbTExh7U130_provenance.
- NP895985.RAF-ffkZUAMFxSwq_fTw6NPis2W07_lNv4gMfJbTExh7U130_assertion evidence source_evidence_literature NP895985.RAF-ffkZUAMFxSwq_fTw6NPis2W07_lNv4gMfJbTExh7U130_provenance.
- NP895985.RAF-ffkZUAMFxSwq_fTw6NPis2W07_lNv4gMfJbTExh7U130_assertion description "[Mutations of the fibrillin-1 (FBN1) gene on chromosome 15 have been described in patients with classical Marfan syndrome (MFS), neonatal MFS, the `MASS` phenotype, autosomal dominant ascending aortic aneurysms, autosomal dominant ectopia lentis (EL), Marfanoid skeletal features [Milewicz et al., 1995: J Clin Invest 95:2373-2378], familial arachnodactyly, Shprintzen-Goldberg syndrome [Hayward et al., 1994: Mol Cell Probes 8:325-327; Furthmayr and Francke, 1997: Semin Thorac Cardiovasc Surg 9:191-205], and severe progressive kyphoscoliosis [Adès et al., 2002: Am J Med Genet 109:261-270].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP895985.RAF-ffkZUAMFxSwq_fTw6NPis2W07_lNv4gMfJbTExh7U130_provenance.
- befree-20140225 importedOn "2014-02-25" NP895985.RAF-ffkZUAMFxSwq_fTw6NPis2W07_lNv4gMfJbTExh7U130_provenance.