Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_provenance.
- befree-2016 importedOn "2016-02-19" NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_provenance.
- NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_assertion wasGeneratedBy ECO_0000203 NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_provenance.
- NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_assertion wasDerivedFrom befree-2016 NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_provenance.
- NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_assertion SIO_000772 15054843 NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_provenance.
- NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_assertion evidence source_evidence_literature NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_provenance.
- NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_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." NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_provenance.