http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ#head http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ#assertion http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ#provenance http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ#assertion http://rdf.disgenet.org/resource/gda/DGN057e834128a9389cd6f6dddca67216be http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2643 http://rdf.disgenet.org/resource/gda/DGN057e834128a9389cd6f6dddca67216be http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013421 http://rdf.disgenet.org/resource/gda/DGN057e834128a9389cd6f6dddca67216be http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ#provenance http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ#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/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19491146 http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ http://purl.org/dc/terms/created 2017-10-17T13:12:56+02:00 http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP433868.RAsdGi99wNt8qw78vK7JDRgAekX0tWZshmahDCPrSBdYQ http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0