http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ130_head http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ130_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/C0013421 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/DGN00edf15f92dd1b484b256a1d3a616183 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/92170 http://rdf.disgenet.org/resource/gda/DGN00edf15f92dd1b484b256a1d3a616183 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013421 http://rdf.disgenet.org/resource/gda/DGN00edf15f92dd1b484b256a1d3a616183 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ130_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/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12552057 http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ http://purl.org/dc/terms/created 2015-08-25T14:47:27+02:00 http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP961558.RA8vFcpCmStF_I3hfYAqA5AtFhLC4MgTUag-rBNk_5XuQ http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0