@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP781319.RAoJHOKYZrLKUGuAQYSNuQFLbqIfMArTRVt6YFi7DrY2Q
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP781319.RAoJHOKYZrLKUGuAQYSNuQFLbqIfMArTRVt6YFi7DrY2Q130_head
{
this:
np:hasAssertion
dgn-np:NP781319.RAoJHOKYZrLKUGuAQYSNuQFLbqIfMArTRVt6YFi7DrY2Q130_assertion
;
np:hasProvenance
dgn-np:NP781319.RAoJHOKYZrLKUGuAQYSNuQFLbqIfMArTRVt6YFi7DrY2Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP781319.RAoJHOKYZrLKUGuAQYSNuQFLbqIfMArTRVt6YFi7DrY2Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP781319.RAoJHOKYZrLKUGuAQYSNuQFLbqIfMArTRVt6YFi7DrY2Q130_assertion
a
np:Assertion
.
dgn-np:NP781319.RAoJHOKYZrLKUGuAQYSNuQFLbqIfMArTRVt6YFi7DrY2Q130_provenance
a
np:Provenance
.
dgn-np:NP781319.RAoJHOKYZrLKUGuAQYSNuQFLbqIfMArTRVt6YFi7DrY2Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP781319.RAoJHOKYZrLKUGuAQYSNuQFLbqIfMArTRVt6YFi7DrY2Q130_assertion
{
miriam-gene:1641
a
ncit:C16612
.
lld:C0431380
a
ncit:C7057
.
dgn-gda:DGN155920e26aa08236efc789454f9ff036
sio:SIO_000628
miriam-gene:1641
,
lld:C0431380
;
a
sio:SIO_001121
.
}
dgn-np:NP781319.RAoJHOKYZrLKUGuAQYSNuQFLbqIfMArTRVt6YFi7DrY2Q130_provenance
{
dgn-np:NP781319.RAoJHOKYZrLKUGuAQYSNuQFLbqIfMArTRVt6YFi7DrY2Q130_assertion
dcterms:description
"[We have studied the coding regions of the DCX gene in 11 Japanese patients with cortical dysplasia and have identified three different mutations (R186C in exon 3, R272X and R303X in exon 5) in four sporadic female cases.]. 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:10369164
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP781319.RAoJHOKYZrLKUGuAQYSNuQFLbqIfMArTRVt6YFi7DrY2Q130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:53+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}