http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU#head http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU#assertion http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU#provenance http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU#assertion http://rdf.disgenet.org/resource/gda/DGNafd24cb74fe5b7429c335188cc9d841d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2200 http://rdf.disgenet.org/resource/gda/DGNafd24cb74fe5b7429c335188cc9d841d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0009782 http://rdf.disgenet.org/resource/gda/DGNafd24cb74fe5b7429c335188cc9d841d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU#provenance http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU#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/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9401003 http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU http://purl.org/dc/terms/created 2017-10-17T13:12:39+02:00 http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP388784.RA8veWt6cYUYlTKr9GBOLp4KPV9YXODxoPN6tvSp5pOjU http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0