@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP377767.RAAmP7Jjk7SoMhOQppy_FDvDjjipvBvigY5OKfuvzDv4M
> .
@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 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:NP377767.RAAmP7Jjk7SoMhOQppy_FDvDjjipvBvigY5OKfuvzDv4M130_head
{
this:
np:hasAssertion
dgn-np:NP377767.RAAmP7Jjk7SoMhOQppy_FDvDjjipvBvigY5OKfuvzDv4M130_assertion
;
np:hasProvenance
dgn-np:NP377767.RAAmP7Jjk7SoMhOQppy_FDvDjjipvBvigY5OKfuvzDv4M130_provenance
;
np:hasPublicationInfo
dgn-np:NP377767.RAAmP7Jjk7SoMhOQppy_FDvDjjipvBvigY5OKfuvzDv4M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP377767.RAAmP7Jjk7SoMhOQppy_FDvDjjipvBvigY5OKfuvzDv4M130_assertion
a
np:Assertion
.
dgn-np:NP377767.RAAmP7Jjk7SoMhOQppy_FDvDjjipvBvigY5OKfuvzDv4M130_provenance
a
np:Provenance
.
dgn-np:NP377767.RAAmP7Jjk7SoMhOQppy_FDvDjjipvBvigY5OKfuvzDv4M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP377767.RAAmP7Jjk7SoMhOQppy_FDvDjjipvBvigY5OKfuvzDv4M130_assertion
{
miriam-gene:9968
a
ncit:C16612
.
lld:C0023267
a
ncit:C7057
.
dgn-gda:DGN6bbba59673eaa7ba9f2a5ea27ba2bfdd
sio:SIO_000628
miriam-gene:9968
,
lld:C0023267
;
a
sio:SIO_001121
.
}
dgn-np:NP377767.RAAmP7Jjk7SoMhOQppy_FDvDjjipvBvigY5OKfuvzDv4M130_provenance
{
dgn-np:NP377767.RAAmP7Jjk7SoMhOQppy_FDvDjjipvBvigY5OKfuvzDv4M130_assertion
dc:description
"[In a total of 80 cytogenetically characterized fibroids from 50 patients, we were not only able to confirm the frequent occurrence of MED12 mutations but also to stratify two mutually exclusive pathways of leiomyomagenesis with either rearrangements of HMGA2 reflected by clonal chromosome abnormalities affecting 12q14~15 or by mutations affecting exon 2 of MED12.]. 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:22223266
;
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:NP377767.RAAmP7Jjk7SoMhOQppy_FDvDjjipvBvigY5OKfuvzDv4M130_publicationInfo
{
this:
dc:created
"2014-10-02T12:35:41+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc: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" .
}