http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4130_head http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4130_assertion http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4130_provenance http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4130_assertion http://identifiers.org/ncbigene/2200 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0024796 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN374119dbc90580a936eeee46ec696a9c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2200 http://rdf.disgenet.org/resource/gda/DGN374119dbc90580a936eeee46ec696a9c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0024796 http://rdf.disgenet.org/resource/gda/DGN374119dbc90580a936eeee46ec696a9c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4130_provenance http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15054843 http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4 http://purl.org/dc/terms/created 2016-05-13T12:45:03+02:00 http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP437779.RAqrVzPdJjjqtbPgx3yNgHLh9rQff79dgEbVKuf4RBYD4 http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0