http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw130_head http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw130_assertion http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw130_provenance http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw130_assertion http://identifiers.org/ncbigene/2550 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/C0270853 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#DGN1f7af95eb92fd1f7d55e32b5bdc132c6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2550 http://rdf.disgenet.org/gene-disease-association.ttl#DGN1f7af95eb92fd1f7d55e32b5bdc132c6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0270853 http://rdf.disgenet.org/gene-disease-association.ttl#DGN1f7af95eb92fd1f7d55e32b5bdc132c6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw130_provenance http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw130_assertion http://purl.org/dc/terms/description [We investigated the hypothesis that the GABABR1 gene (GABBR1) represents a candidate gene for EJM1 by: (1) defining the precise localization approximately 130 kilobases telomeric to the HLA-F locus, (2) by characterizing its genomic organization, and (3) by mutation screening of the entire coding region of GABBR1 in 18 German patients with juvenile myoclonic epilepsy (JME) who were derived from families with evidence for linkage to chromosome 6p21.3 (cumulative lod score Z=3.17 at HLA-DQ).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw130_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#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9933300 http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw130_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#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw130_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#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw http://purl.org/dc/terms/created 2014-10-02T12:39:05+02:00 http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP700219.RA7LJJjgc1idw_ea72rWX3TmSEBY0pARdi2QVhGQQtPKw 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