http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY#head
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY#assertion
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY#provenance
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY#assertion
http://rdf.disgenet.org/resource/gda/DGNbfc65ae19069a092531f5fad7091a8da
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1861
http://rdf.disgenet.org/resource/gda/DGNbfc65ae19069a092531f5fad7091a8da
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0026650
http://rdf.disgenet.org/resource/gda/DGNbfc65ae19069a092531f5fad7091a8da
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY#provenance
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY#assertion
http://purl.org/dc/terms/description
[A GAG deletion in the DYT1 gene is responsible for the autosomal dominant movement disorder, early onset primary torsion dystonia, which is characterised by involuntary sustained muscle contractions and abnormal posturing of the limbs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY#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/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/19457118
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY#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/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY
http://purl.org/dc/terms/created
2017-10-17T13:12:07+02:00
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP305427.RABV1FalYFjGjNAkgBN7PlLa-BXF4CnVH4kiknt8yScZY
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