http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_head http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_assertion http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_provenance http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_assertion http://identifiers.org/ncbigene/7436 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/C0394006 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#DGN6d6b0c061ddf9f044b99cd02cfd38504 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7436 http://rdf.disgenet.org/gene-disease-association.ttl#DGN6d6b0c061ddf9f044b99cd02cfd38504 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0394006 http://rdf.disgenet.org/gene-disease-association.ttl#DGN6d6b0c061ddf9f044b99cd02cfd38504 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_provenance http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_assertion http://purl.org/dc/terms/description [We have delineated the phenotype associated with dysequilibrium syndrome in two Omani families and identified the first homozygous missense pathogenic mutation in VLDLR gene with likely founder effect in the southeastern part of the Arabian Peninsula.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_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#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22973972 http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_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#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_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#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo http://purl.org/dc/terms/created 2014-10-02T12:36:12+02:00 http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo 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