http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU130_head http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU130_assertion http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU130_assertion http://identifiers.org/ncbigene/92170 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/C0686377 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#DGNc3aeb6564d6e6dd9e6efdcb92a7bce11 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/92170 http://rdf.disgenet.org/gene-disease-association.ttl#DGNc3aeb6564d6e6dd9e6efdcb92a7bce11 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0686377 http://rdf.disgenet.org/gene-disease-association.ttl#DGNc3aeb6564d6e6dd9e6efdcb92a7bce11 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU130_assertion http://purl.org/dc/terms/description [The authors report two twin sisters, age 15 years, with recessive GTP cyclohydrolase deficiency, who presented with neonatal onset of rigidity, tremor, and dystonia but with no other symptoms suggestive of a diffuse CNS involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU130_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#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12552057 http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU130_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#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU130_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#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU http://purl.org/dc/terms/created 2014-10-02T12:39:15+02:00 http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP715882.RAXoIADjdsI8qRXr0T7K_adJpTEA0BdoxMaHLJUD_3VBU 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