http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY130_head http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY130_assertion http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY130_provenance http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY130_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/DGNd658e993e2e4b8259280b3fe3e623b3e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/146 http://rdf.disgenet.org/resource/gda/DGNd658e993e2e4b8259280b3fe3e623b3e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0085292 http://rdf.disgenet.org/resource/gda/DGNd658e993e2e4b8259280b3fe3e623b3e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY130_provenance http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY130_assertion http://purl.org/dc/terms/description [To confirm linkage of the locus of the major form of hyperekplexia to markers on chromosome 5q, to screen for a point mutation in the gene encoding the alpha 1 subunit of the glycine receptor, and to investigate whether the putative minor form of hyperkeplexia consisting of an excessive startle response without stiffness, is based on the same genetic defect as the major form.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY130_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/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7763205 http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY130_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/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY http://purl.org/dc/terms/created 2016-05-13T12:51:45+02:00 http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1321146.RANRxfZncLgD3R9RSjjIm9P5idbnjrId22jOreXcIjZWY 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