http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_head http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_assertion http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_provenance http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_assertion http://identifiers.org/ncbigene/4935 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#DGNe8ccbfcce0b621ce57644fff354736b2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4935 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe8ccbfcce0b621ce57644fff354736b2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0078917 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe8ccbfcce0b621ce57644fff354736b2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_provenance http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_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#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_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#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21264491 http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_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#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_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#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ http://purl.org/dc/terms/created 2014-10-02T12:35:28+02:00 http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ 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