http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo#head http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo#assertion http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo#provenance http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo#assertion http://rdf.disgenet.org/resource/gda/DGNffa409064072a27fd16f44d270461733 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2643 http://rdf.disgenet.org/resource/gda/DGNffa409064072a27fd16f44d270461733 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0007789 http://rdf.disgenet.org/resource/gda/DGNffa409064072a27fd16f44d270461733 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo#provenance http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo#assertion http://purl.org/dc/terms/description [This case report documents an unusual presentation of dopa-responsive dystonia (DRD) in three siblings (two females, one male) which simulated cerebral palsy (CP) and describes the evolution of their spinal deformity in relation to growth and responsiveness to levodopa therapy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo#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/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14974638 http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo#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/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo http://purl.org/dc/terms/created 2017-10-17T13:12:56+02:00 http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP433720.RAe8CpVeaT7zBLMvZspev-Vyr7Goh3BBopn4ohb1Jqpbo 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