http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_head http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_assertion http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_assertion http://identifiers.org/ncbigene/25824 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/C0020630 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#DGN83502f45c01b0525c43cebdc5d19ff33 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/25824 http://rdf.disgenet.org/gene-disease-association.ttl#DGN83502f45c01b0525c43cebdc5d19ff33 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0020630 http://rdf.disgenet.org/gene-disease-association.ttl#DGN83502f45c01b0525c43cebdc5d19ff33 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_assertion http://purl.org/dc/terms/description [Because abnormalities in PLP metabolism have been shown to cause epileptic seizures in mice null for the TNAP gene, these kinetic data help explain the variable expressivity of epileptic seizures in hypophosphatasia patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_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#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12162492 http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_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#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_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#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc http://purl.org/dc/terms/created 2014-10-02T12:36:56+02:00 http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc 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