http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE130_head http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE130_assertion http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE130_provenance http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE130_assertion http://identifiers.org/ncbigene/4948 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/C0078917 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#DGNb71e458fc20ac892d11c03ff05c23c8c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4948 http://rdf.disgenet.org/gene-disease-association.ttl#DGNb71e458fc20ac892d11c03ff05c23c8c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0078917 http://rdf.disgenet.org/gene-disease-association.ttl#DGNb71e458fc20ac892d11c03ff05c23c8c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE130_provenance http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE130_assertion http://purl.org/dc/terms/description [We also performed a full genome screen for chromosomal abnormalities, and searched for mutations in two genes (GPR143 and OCA2) known to be associated with ocular albinism and PAX6 gene known to be associated with aniridia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE130_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#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21264491 http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE130_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#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE130_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#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE http://purl.org/dc/terms/created 2014-10-02T12:38:25+02:00 http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP639428.RAFMrzt3MQwcx8EL-bY_b18VO4uzkOXECXY11W8lsTWCE 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