http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_head http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_assertion http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_provenance http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_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/gene-disease-association.ttl#DGN46ab1b8870964b036ab7d2b220b6dc0f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2643 http://rdf.disgenet.org/gene-disease-association.ttl#DGN46ab1b8870964b036ab7d2b220b6dc0f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0393593 http://rdf.disgenet.org/gene-disease-association.ttl#DGN46ab1b8870964b036ab7d2b220b6dc0f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_provenance http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_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/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_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#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19491146 http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#gad-20130706 http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_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#gad-20130706 http://purl.org/pav/2.0/importedOn 2013-07-06 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#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE http://purl.org/dc/terms/created 2014-10-02T12:32:36+02:00 http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE 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