http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w130_head http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w130_assertion http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w130_provenance http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w130_assertion http://identifiers.org/ncbigene/1301 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/C0265253 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#DGNf980706b97611526c1303988dcc5234c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1301 http://rdf.disgenet.org/gene-disease-association.ttl#DGNf980706b97611526c1303988dcc5234c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265253 http://rdf.disgenet.org/gene-disease-association.ttl#DGNf980706b97611526c1303988dcc5234c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w130_provenance http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w130_assertion http://purl.org/dc/terms/description [A series of 44 unrelated patients in whom COL2A1 screening demonstrated normal results but whose phenotype was nevertheless highly suggestive of either Stickler syndrome (with ocular involvement) or Marshall syndrome were investigated for mutations in the COL11A1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w130_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#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17236192 http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w130_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#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w130_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#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w http://purl.org/dc/terms/created 2014-10-02T12:38:58+02:00 http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP688647.RAXpOO95MK8K1UUVewedMNSc6ysomG7aISpjL6qoYlh-w 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