http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk#head http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk#assertion http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk#provenance http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk#assertion http://rdf.disgenet.org/resource/gda/DGN2fc1f67c4855972a91ff311000c562a1 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8629 http://rdf.disgenet.org/resource/gda/DGN2fc1f67c4855972a91ff311000c562a1 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0014548 http://rdf.disgenet.org/resource/gda/DGN2fc1f67c4855972a91ff311000c562a1 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk#provenance http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk#assertion http://purl.org/dc/terms/description [Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11463517 http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/CTD_human http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v5.0.0/void/CTD_human http://purl.org/pav/importedOn 2017-01-25 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000205 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk http://purl.org/dc/terms/created 2017-10-17T13:17:31+02:00 http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1151457.RAdVw1dS1-Jq_Y2yQ3hhtN9TeoL7XiQ6fUyAwqIdaopQk http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0