@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP758353.RA4zhWQbrwLEaqwx8B14a6ziCN9K7GfgOLhPXiuwLNG0o
> .
@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:NP758353.RA4zhWQbrwLEaqwx8B14a6ziCN9K7GfgOLhPXiuwLNG0o130_head
{
this:
np:hasAssertion
dgn-np:NP758353.RA4zhWQbrwLEaqwx8B14a6ziCN9K7GfgOLhPXiuwLNG0o130_assertion
;
np:hasProvenance
dgn-np:NP758353.RA4zhWQbrwLEaqwx8B14a6ziCN9K7GfgOLhPXiuwLNG0o130_provenance
;
np:hasPublicationInfo
dgn-np:NP758353.RA4zhWQbrwLEaqwx8B14a6ziCN9K7GfgOLhPXiuwLNG0o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP758353.RA4zhWQbrwLEaqwx8B14a6ziCN9K7GfgOLhPXiuwLNG0o130_assertion
a
np:Assertion
.
dgn-np:NP758353.RA4zhWQbrwLEaqwx8B14a6ziCN9K7GfgOLhPXiuwLNG0o130_provenance
a
np:Provenance
.
dgn-np:NP758353.RA4zhWQbrwLEaqwx8B14a6ziCN9K7GfgOLhPXiuwLNG0o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP758353.RA4zhWQbrwLEaqwx8B14a6ziCN9K7GfgOLhPXiuwLNG0o130_assertion
{
miriam-gene:9970
a
ncit:C16612
.
lld:C0022541
a
ncit:C7057
.
dgn-gda:DGN646fc24127b51213ef82341314772047
sio:SIO_000628
miriam-gene:9970
,
lld:C0022541
;
a
sio:SIO_001121
.
}
dgn-np:NP758353.RA4zhWQbrwLEaqwx8B14a6ziCN9K7GfgOLhPXiuwLNG0o130_provenance
{
dgn-np:NP758353.RA4zhWQbrwLEaqwx8B14a6ziCN9K7GfgOLhPXiuwLNG0o130_assertion
dcterms:description
"[In a cohort of KSS individuals without mutations in EHMT1 (the only gene known to be disrupted in KSS until now), we identified de novo mutations in four genes, MBD5, MLL3, SMARCB1, and NR1I3, all of which encode epigenetic regulators.]. 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:22726846
;
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:NP758353.RA4zhWQbrwLEaqwx8B14a6ziCN9K7GfgOLhPXiuwLNG0o130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:39+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" .
}