http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs130_head http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs130_assertion http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs130_provenance http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs130_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/C0265235 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/DGN553f4a6fffe4e7d5e4eadb6041ffa397 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1301 http://rdf.disgenet.org/resource/gda/DGN553f4a6fffe4e7d5e4eadb6041ffa397 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265235 http://rdf.disgenet.org/resource/gda/DGN553f4a6fffe4e7d5e4eadb6041ffa397 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs130_provenance http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs130_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/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17236192 http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs http://purl.org/dc/terms/created 2015-08-25T14:40:44+02:00 http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP320863.RAIdsZ38UEFPDjVt53__9__OyiUbFpiJBSF73Rk7TExvs http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0