http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_head http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_assertion http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_assertion http://identifiers.org/ncbigene/2006 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/gene-disease-association.ttl#DGN0a5c9039e48fffb99fc59393ec94dee3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2006 http://rdf.disgenet.org/gene-disease-association.ttl#DGN0a5c9039e48fffb99fc59393ec94dee3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0024796 http://rdf.disgenet.org/gene-disease-association.ttl#DGN0a5c9039e48fffb99fc59393ec94dee3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_assertion http://purl.org/dc/terms/description [Although the underlying biochemical and molecular defect(s) of this pleiotropic disease is currently unknown, we have consistently observed apparent diminished content of elastin-associated microfibrillar fibers accumulating in skin, or produced by cultured fibroblasts, from patients with the Marfan syndrome and have documented the cosegregation of these immunofluorescent abnormalities of microfibrillar fibers with the Marfan syndrome phenotype in family studies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/2180285 http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc http://purl.org/dc/terms/created 2014-10-02T12:39:37+02:00 http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0