@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP742637.RA04syaG4cyQtxHvATcfqWC9ndEzj-WxRodN4LT5b0h1g
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP742637.RA04syaG4cyQtxHvATcfqWC9ndEzj-WxRodN4LT5b0h1g130_head
{
this:
np:hasAssertion
dgn-np:NP742637.RA04syaG4cyQtxHvATcfqWC9ndEzj-WxRodN4LT5b0h1g130_assertion
;
np:hasProvenance
dgn-np:NP742637.RA04syaG4cyQtxHvATcfqWC9ndEzj-WxRodN4LT5b0h1g130_provenance
;
np:hasPublicationInfo
dgn-np:NP742637.RA04syaG4cyQtxHvATcfqWC9ndEzj-WxRodN4LT5b0h1g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP742637.RA04syaG4cyQtxHvATcfqWC9ndEzj-WxRodN4LT5b0h1g130_assertion
a
np:Assertion
.
dgn-np:NP742637.RA04syaG4cyQtxHvATcfqWC9ndEzj-WxRodN4LT5b0h1g130_provenance
a
np:Provenance
.
dgn-np:NP742637.RA04syaG4cyQtxHvATcfqWC9ndEzj-WxRodN4LT5b0h1g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP742637.RA04syaG4cyQtxHvATcfqWC9ndEzj-WxRodN4LT5b0h1g130_assertion
{
miriam-gene:2643
a
ncit:C16612
.
lld:C0013421
a
ncit:C7057
.
dgn-gda:DGN8c6abde77c47c6f756923b35b6d75564
sio:SIO_000628
miriam-gene:2643
,
lld:C0013421
;
a
sio:SIO_001121
.
}
dgn-np:NP742637.RA04syaG4cyQtxHvATcfqWC9ndEzj-WxRodN4LT5b0h1g130_provenance
{
dgn-np:NP742637.RA04syaG4cyQtxHvATcfqWC9ndEzj-WxRodN4LT5b0h1g130_assertion
dcterms: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."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:19491146
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP742637.RA04syaG4cyQtxHvATcfqWC9ndEzj-WxRodN4LT5b0h1g130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:21+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}