http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw130_head http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw130_assertion http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw130_provenance http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw130_assertion http://identifiers.org/ncbigene/1280 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/resource/gda/DGN4b1cf93362dfff86be9b9dc7b511d89e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1280 http://rdf.disgenet.org/resource/gda/DGN4b1cf93362dfff86be9b9dc7b511d89e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265253 http://rdf.disgenet.org/resource/gda/DGN4b1cf93362dfff86be9b9dc7b511d89e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw130_provenance http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw130_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/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw130_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/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17236192 http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw130_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/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw http://purl.org/dc/terms/created 2016-05-13T12:46:12+02:00 http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP589675.RAj8U2e-Z0EjQ_pWaw8_qFlB9joclS0LcH1kqkrQ3qOxw 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