http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_head http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_assertion http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_assertion http://identifiers.org/ncbigene/9657 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/C0339527 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#DGNdd4887e3341828d603ef5fc249956b3d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9657 http://rdf.disgenet.org/gene-disease-association.ttl#DGNdd4887e3341828d603ef5fc249956b3d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0339527 http://rdf.disgenet.org/gene-disease-association.ttl#DGNdd4887e3341828d603ef5fc249956b3d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_assertion http://purl.org/dc/terms/description [Therefore, in our LCA collection from Saudi Arabia, three of the 37 unassigned families carry mutations in retinal disease genes ALMS1, CNGA3, and MYO7A, which have not been previously associated with LCA, and 3 of the 37 carry novel mutations in IQCB1, which has been recently associated with LCA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_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#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21901789 http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_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#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_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#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8 http://purl.org/dc/terms/created 2014-10-02T12:38:17+02:00 http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8 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