http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY130_head
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY130_assertion
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY130_provenance
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY130_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/C0575158
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/DGN9558fb82b08ef476897ebfcd78310337
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2200
http://rdf.disgenet.org/resource/gda/DGN9558fb82b08ef476897ebfcd78310337
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0575158
http://rdf.disgenet.org/resource/gda/DGN9558fb82b08ef476897ebfcd78310337
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY130_provenance
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY130_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/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/15054843
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://purl.org/pav/importedOn
2015-02-27
http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY
http://purl.org/dc/terms/created
2015-08-25T14:41:29+02:00
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP395968.RADLqF4frAv_NA5t8FkOCLO3KY15mVkfJiXJCIRUndbTY
http://purl.org/pav/version
v3.0.0.0
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v3.0.0