http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_head http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_assertion http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_assertion http://identifiers.org/ncbigene/4088 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/C3151087 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#DGN07643edf71b64791f18e57e58d3e95e3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4088 http://rdf.disgenet.org/gene-disease-association.ttl#DGN07643edf71b64791f18e57e58d3e95e3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3151087 http://rdf.disgenet.org/gene-disease-association.ttl#DGN07643edf71b64791f18e57e58d3e95e3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_assertion http://purl.org/dc/terms/description [SMAD3 mutations were recently described in patients with aneurysms osteoarthritis syndrome and some of the features of this syndrome were identified in individuals in our cohort, but these features were notably absent in many SMAD3 mutation carriers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21778426 http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#uniprot-20130724 http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000218 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000205 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/v2.1.0/void.ttl#uniprot-20130724 http://purl.org/pav/2.0/importedOn 2013-07-24 http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg http://purl.org/dc/terms/created 2014-10-02T12:32:00+02:00 http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg 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