http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_head http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_assertion http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_provenance http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_assertion http://identifiers.org/ncbigene/2643 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/C0393593 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/DGN46ab1b8870964b036ab7d2b220b6dc0f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2643 http://rdf.disgenet.org/resource/gda/DGN46ab1b8870964b036ab7d2b220b6dc0f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0393593 http://rdf.disgenet.org/resource/gda/DGN46ab1b8870964b036ab7d2b220b6dc0f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_provenance http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_assertion http://purl.org/dc/terms/description [In order to evaluate the relative frequency of the mutations in these genes, but also in the genes involved in the biosynthesis and recycling of BH4, and to evaluate the associated clinical spectrum, we have studied a large series of index patients (n = 64) with Dopa-responsive dystonia, in whom dystonia improved by at least 50% after L-Dopa treatment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_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/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19491146 http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/gad-20150221 http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/gad-20150221 http://purl.org/pav/importedOn 2015-02-21 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/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg http://purl.org/dc/terms/created 2015-08-25T14:38:39+02:00 http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP106543.RA5Ba0mzisfrKG04v9e39qgFCBj4oRsjhPClyZ4247gqg 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