http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_head http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_assertion http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_provenance http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_assertion http://identifiers.org/ncbigene/4653 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/C2981140 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#DGN3e30bac21020e00155192cec4f4b220c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4653 http://rdf.disgenet.org/gene-disease-association.ttl#DGN3e30bac21020e00155192cec4f4b220c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2981140 http://rdf.disgenet.org/gene-disease-association.ttl#DGN3e30bac21020e00155192cec4f4b220c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_provenance http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_assertion http://purl.org/dc/terms/description [The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC mutation was not detected, illustrating that mutations in CYP1B1 rather than mutation in MYOC can underlie familial primary juvenile glaucoma in certain populations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_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#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21596299 http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_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#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_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#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE http://purl.org/dc/terms/created 2014-10-02T12:36:06+02:00 http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE 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