http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_head http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_assertion http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_provenance http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_assertion http://identifiers.org/ncbigene/727833 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/C0339525 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#DGN15a1c498e9fb56c10e645e067a80fd56 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/727833 http://rdf.disgenet.org/gene-disease-association.ttl#DGN15a1c498e9fb56c10e645e067a80fd56 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0339525 http://rdf.disgenet.org/gene-disease-association.ttl#DGN15a1c498e9fb56c10e645e067a80fd56 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_provenance http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_assertion http://purl.org/dc/terms/description [The purpose of this study was to determine the frequency and spectrum of inosine monophosphate dehydrogenase type I (IMPDH1) mutations associated with autosomal dominant retinitis pigmentosa (RP), to determine whether mutations in IMPDH1 cause other forms of inherited retinal degeneration, and to analyze IMPDH1 mutations for alterations in enzyme activity and nucleic acid binding.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_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#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16384941 http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_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#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_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#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o http://purl.org/dc/terms/created 2014-10-02T12:39:25+02:00 http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o 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