http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo#head http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo#assertion http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo#provenance http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo#assertion http://rdf.disgenet.org/resource/gda/DGNfd1c4f35a3ea1557cf50c01f95cbfb15 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1297 http://rdf.disgenet.org/resource/gda/DGNfd1c4f35a3ea1557cf50c01f95cbfb15 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265253 http://rdf.disgenet.org/resource/gda/DGNfd1c4f35a3ea1557cf50c01f95cbfb15 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo#provenance http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo#assertion http://purl.org/dc/terms/description [Although the overall phenotype was comparable to autosomal dominant Stickler, vitreous changes that may enable recognition of patients who are likely to carry mutations in COL9A1 were identified, and exudative retinal detachment was observed as a new finding in Stickler syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo#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/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21421862 http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo#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/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo http://purl.org/dc/terms/created 2017-10-17T13:11:39+02:00 http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP229933.RA4nmI89QIia2LQsh5lO980vYX_U_0QQtPYsHww0ZVzVo 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