@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP538427.RAuLeJNxBdQPakqB8FkgpMwJcivbP9roKtlvnIll74qlI
> .
@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:NP538427.RAuLeJNxBdQPakqB8FkgpMwJcivbP9roKtlvnIll74qlI130_head
{
this:
np:hasAssertion
dgn-np:NP538427.RAuLeJNxBdQPakqB8FkgpMwJcivbP9roKtlvnIll74qlI130_assertion
;
np:hasProvenance
dgn-np:NP538427.RAuLeJNxBdQPakqB8FkgpMwJcivbP9roKtlvnIll74qlI130_provenance
;
np:hasPublicationInfo
dgn-np:NP538427.RAuLeJNxBdQPakqB8FkgpMwJcivbP9roKtlvnIll74qlI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP538427.RAuLeJNxBdQPakqB8FkgpMwJcivbP9roKtlvnIll74qlI130_assertion
a
np:Assertion
.
dgn-np:NP538427.RAuLeJNxBdQPakqB8FkgpMwJcivbP9roKtlvnIll74qlI130_provenance
a
np:Provenance
.
dgn-np:NP538427.RAuLeJNxBdQPakqB8FkgpMwJcivbP9roKtlvnIll74qlI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP538427.RAuLeJNxBdQPakqB8FkgpMwJcivbP9roKtlvnIll74qlI130_assertion
{
miriam-gene:118460
a
ncit:C16612
.
lld:C0795851
a
ncit:C7057
.
dgn-gda:DGN72ebce7181581174558ec9c4d32e7e4a
sio:SIO_000628
miriam-gene:118460
,
lld:C0795851
;
a
sio:SIO_001121
.
}
dgn-np:NP538427.RAuLeJNxBdQPakqB8FkgpMwJcivbP9roKtlvnIll74qlI130_provenance
{
dgn-np:NP538427.RAuLeJNxBdQPakqB8FkgpMwJcivbP9roKtlvnIll74qlI130_assertion
dcterms:description
"[A 2-year-old girl with growth and developmental retardation, minor facial anomalies, asymmetry of face and body, tetralogy of Fallot, and reticular hyperpigmentation of the skin was found to have mosaic trisomy 14 involving a t(14;15)(q11;p11).]. 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:4050866
;
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:NP538427.RAuLeJNxBdQPakqB8FkgpMwJcivbP9roKtlvnIll74qlI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:25+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" .
}