http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo130_head http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo130_assertion http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo130_provenance http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo130_assertion http://identifiers.org/ncbigene/146 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/C0085292 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/resource/gda/DGN033aed58ee37011696226c223ae55920 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/146 http://rdf.disgenet.org/resource/gda/DGN033aed58ee37011696226c223ae55920 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0085292 http://rdf.disgenet.org/resource/gda/DGN033aed58ee37011696226c223ae55920 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo130_provenance http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo130_assertion http://purl.org/dc/terms/description [Mutations in the gene encoding the alpha-1 subunit of the glycine receptor (GLRA1) are responsible for the major form of hyperekplexia but no mutation was detected in patients with the minor form in the large Dutch pedigree originally described by Suhren and colleagues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12210885 http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo http://purl.org/dc/terms/created 2016-05-13T12:44:31+02:00 http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP366856.RAyt6Em6DIzzSG_Jp1o1Gluu1tYV9yzfOpna2O7b3UBHo http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0