@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP21854.RAXTvw-I9V0b9xPGdwj0n72TWLO7liW4y4vEeRJubun4U
> .
@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/v3.0.0/void/
> .
dgn-np:NP21854.RAXTvw-I9V0b9xPGdwj0n72TWLO7liW4y4vEeRJubun4U130_head
{
this:
np:hasAssertion
dgn-np:NP21854.RAXTvw-I9V0b9xPGdwj0n72TWLO7liW4y4vEeRJubun4U130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP21854.RAXTvw-I9V0b9xPGdwj0n72TWLO7liW4y4vEeRJubun4U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP21854.RAXTvw-I9V0b9xPGdwj0n72TWLO7liW4y4vEeRJubun4U130_assertion
a
np:Assertion
.
dgn-np:NP21854.RAXTvw-I9V0b9xPGdwj0n72TWLO7liW4y4vEeRJubun4U130_provenance
a
np:Provenance
.
dgn-np:NP21854.RAXTvw-I9V0b9xPGdwj0n72TWLO7liW4y4vEeRJubun4U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP21854.RAXTvw-I9V0b9xPGdwj0n72TWLO7liW4y4vEeRJubun4U130_assertion
{
miriam-gene:4221
a
ncit:C16612
.
lld:C0206686
a
ncit:C7057
.
dgn-gda:DGNc7772a97b9f732176aea68267a7ef473
sio:SIO_000628
miriam-gene:4221
,
lld:C0206686
;
a
sio:SIO_001121
.
}
dgn-np:NP21854.RAXTvw-I9V0b9xPGdwj0n72TWLO7liW4y4vEeRJubun4U130_provenance
{
dgn-np:NP21854.RAXTvw-I9V0b9xPGdwj0n72TWLO7liW4y4vEeRJubun4U130_assertion
dcterms:description
"[We performed exome sequencing and SNP array analysis of 45 ACCs and identified recurrent alterations in known driver genes (CTNNB1, TP53, CDKN2A, RB1 and MEN1) and in genes not previously reported in ACC (ZNRF3, DAXX, TERT and MED12), which we validated in an independent cohort of 77 ACCs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:24747642
;
prov:wasDerivedFrom
dgn-void:ctd_human-20150221
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP21854.RAXTvw-I9V0b9xPGdwj0n72TWLO7liW4y4vEeRJubun4U130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:37:53+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: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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}