@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP421070.RAaN1zibxP1OjoCgphfg1-JvR3Ul-LmCpCYfObKGtKqIY
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP421070.RAaN1zibxP1OjoCgphfg1-JvR3Ul-LmCpCYfObKGtKqIY130_assertion
;
np:hasProvenance
dgn-np:NP421070.RAaN1zibxP1OjoCgphfg1-JvR3Ul-LmCpCYfObKGtKqIY130_provenance
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np:hasPublicationInfo
dgn-np:NP421070.RAaN1zibxP1OjoCgphfg1-JvR3Ul-LmCpCYfObKGtKqIY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP421070.RAaN1zibxP1OjoCgphfg1-JvR3Ul-LmCpCYfObKGtKqIY130_assertion
a
np:Assertion
.
dgn-np:NP421070.RAaN1zibxP1OjoCgphfg1-JvR3Ul-LmCpCYfObKGtKqIY130_provenance
a
np:Provenance
.
dgn-np:NP421070.RAaN1zibxP1OjoCgphfg1-JvR3Ul-LmCpCYfObKGtKqIY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP421070.RAaN1zibxP1OjoCgphfg1-JvR3Ul-LmCpCYfObKGtKqIY130_assertion
{
miriam-gene:1788
a
ncit:C16612
.
lld:C0026986
a
ncit:C7057
.
dgn-gda:DGN3143d9dcd5a4135ae98eff0049276e7c
sio:SIO_000628
miriam-gene:1788
,
lld:C0026986
;
a
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.
}
dgn-np:NP421070.RAaN1zibxP1OjoCgphfg1-JvR3Ul-LmCpCYfObKGtKqIY130_provenance
{
dgn-np:NP421070.RAaN1zibxP1OjoCgphfg1-JvR3Ul-LmCpCYfObKGtKqIY130_assertion
dcterms:description
"[We sequenced all coding exons of DNMT3A using DNA from bone marrow and paired normal cells from 150 patients with MDS and identified 13 heterozygous mutations with predicted translational consequences in 12/150 patients (8.0%).]. 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:21415852
;
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:NP421070.RAaN1zibxP1OjoCgphfg1-JvR3Ul-LmCpCYfObKGtKqIY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:10+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
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dgn-void:disgenetrdf
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}