@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP182523.RAk5RLrWa9mkROnQADqkfiGJUFo4Lt62qEQJu_guH5ycc
> .
@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:NP182523.RAk5RLrWa9mkROnQADqkfiGJUFo4Lt62qEQJu_guH5ycc130_head
{
this:
np:hasAssertion
dgn-np:NP182523.RAk5RLrWa9mkROnQADqkfiGJUFo4Lt62qEQJu_guH5ycc130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP182523.RAk5RLrWa9mkROnQADqkfiGJUFo4Lt62qEQJu_guH5ycc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP182523.RAk5RLrWa9mkROnQADqkfiGJUFo4Lt62qEQJu_guH5ycc130_assertion
a
np:Assertion
.
dgn-np:NP182523.RAk5RLrWa9mkROnQADqkfiGJUFo4Lt62qEQJu_guH5ycc130_provenance
a
np:Provenance
.
dgn-np:NP182523.RAk5RLrWa9mkROnQADqkfiGJUFo4Lt62qEQJu_guH5ycc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP182523.RAk5RLrWa9mkROnQADqkfiGJUFo4Lt62qEQJu_guH5ycc130_assertion
{
miriam-gene:55145
a
ncit:C16612
.
lld:C0393593
a
ncit:C7057
.
dgn-gda:DGN3f3899e1770e0a775d7770b2bf0c315f
sio:SIO_000628
miriam-gene:55145
,
lld:C0393593
;
a
sio:SIO_001122
.
}
dgn-np:NP182523.RAk5RLrWa9mkROnQADqkfiGJUFo4Lt62qEQJu_guH5ycc130_provenance
{
dgn-np:NP182523.RAk5RLrWa9mkROnQADqkfiGJUFo4Lt62qEQJu_guH5ycc130_assertion
dcterms:description
"[We analyzed 610 patients with various forms of dystonia for sequence variants in the THAP1 gene by means of high resolution melting to delineate the prevalence of sequence variants and phenotypic variability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
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sio:SIO_000772
miriam-pubmed:20669277
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP182523.RAk5RLrWa9mkROnQADqkfiGJUFo4Lt62qEQJu_guH5ycc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:10+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
;
prv:usedData
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;
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" .
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"v4.0.0" .
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