@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y
> .
@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:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_head
{
this:
np:hasAssertion
dgn-np:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_assertion
;
np:hasProvenance
dgn-np:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_provenance
;
np:hasPublicationInfo
dgn-np:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_assertion
a
np:Assertion
.
dgn-np:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_provenance
a
np:Provenance
.
dgn-np:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_assertion
{
miriam-gene:668
a
ncit:C16612
.
lld:C2931838
a
ncit:C7057
.
dgn-gda:DGNb567af210441e81729722164a3c202ea
sio:SIO_000628
miriam-gene:668
,
lld:C2931838
;
a
sio:SIO_001121
.
}
dgn-np:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_provenance
{
dgn-np:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_assertion
dcterms:description
"[This is the first study to demonstrate that a significant number of missense mutations in the FHD of FOXL2 lead to mislocalization, protein aggregation and altered transactivation, and to provide insights into the pathogenesis associated with missense mutations of FOXL2 in human disease.]. 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:18372316
;
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:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:05+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" .
}