http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw130_head http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw130_assertion http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw130_provenance http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw130_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/C1321551 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/DGN490a4cd634cb801389e4df25313d7572 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2200 http://rdf.disgenet.org/resource/gda/DGN490a4cd634cb801389e4df25313d7572 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1321551 http://rdf.disgenet.org/resource/gda/DGN490a4cd634cb801389e4df25313d7572 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw130_provenance http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw130_assertion http://purl.org/dc/terms/description [Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome, dominant ectopia lentis, familial ascending aortic aneurysm, isolated skeletal features of Marfan syndrome, and Shprintzen-Goldberg syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw130_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/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9401003 http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw130_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/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw http://purl.org/dc/terms/created 2016-05-13T12:52:14+02:00 http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1385480.RAMGaUN7wTwnRB8zdId1QIZ4L8CJFQsxT2kMyD3jb4KJw 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