http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw130_head http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw130_assertion http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw130_provenance http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw130_assertion http://identifiers.org/ncbigene/8575 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/DGN0c624d5765a77c7a356bc55e3e585ea6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8575 http://rdf.disgenet.org/resource/gda/DGN0c624d5765a77c7a356bc55e3e585ea6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013421 http://rdf.disgenet.org/resource/gda/DGN0c624d5765a77c7a356bc55e3e585ea6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw130_provenance http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw130_assertion http://purl.org/dc/terms/description [Because different mutations in the same gene can result in diverse phenotypes, we sequenced all coding exons of the DYT1, DYT5a, DYT5b, DYT6, DYT11, DYT12, and DYT16 genes in 44 CRPS patients with fixed dystonia to investigate whether high-penetrant causal mutations play a role in CRPS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20066431 http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw http://purl.org/dc/terms/created 2016-05-13T12:47:41+02:00 http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP786372.RApxRXizi4KGIUrruLw16zyXF4dPrgtb8lk40FApaFbYw http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0