@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP199135.RAgzaP_knewrfqCgKzjRkQWKa081LKnu6BdeX6onvLD4w
> .
@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:NP199135.RAgzaP_knewrfqCgKzjRkQWKa081LKnu6BdeX6onvLD4w130_head
{
this:
np:hasAssertion
dgn-np:NP199135.RAgzaP_knewrfqCgKzjRkQWKa081LKnu6BdeX6onvLD4w130_assertion
;
np:hasProvenance
dgn-np:NP199135.RAgzaP_knewrfqCgKzjRkQWKa081LKnu6BdeX6onvLD4w130_provenance
;
np:hasPublicationInfo
dgn-np:NP199135.RAgzaP_knewrfqCgKzjRkQWKa081LKnu6BdeX6onvLD4w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP199135.RAgzaP_knewrfqCgKzjRkQWKa081LKnu6BdeX6onvLD4w130_assertion
a
np:Assertion
.
dgn-np:NP199135.RAgzaP_knewrfqCgKzjRkQWKa081LKnu6BdeX6onvLD4w130_provenance
a
np:Provenance
.
dgn-np:NP199135.RAgzaP_knewrfqCgKzjRkQWKa081LKnu6BdeX6onvLD4w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP199135.RAgzaP_knewrfqCgKzjRkQWKa081LKnu6BdeX6onvLD4w130_assertion
{
miriam-gene:3342
a
ncit:C16612
.
lld:C0015544
a
ncit:C7057
.
dgn-gda:DGNf824e285083e3c9fb5d1b297422f6cc1
sio:SIO_000628
miriam-gene:3342
,
lld:C0015544
;
a
sio:SIO_001121
.
}
dgn-np:NP199135.RAgzaP_knewrfqCgKzjRkQWKa081LKnu6BdeX6onvLD4w130_provenance
{
dgn-np:NP199135.RAgzaP_knewrfqCgKzjRkQWKa081LKnu6BdeX6onvLD4w130_assertion
dcterms:description
"[Congenital anomalies, especially heart defects, as well as primary microcephaly, short stature and failure to thrive were clearly more frequent in children with pathogenic CNVs compared with children with normal array CGH results.]. 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:22283495
;
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:NP199135.RAgzaP_knewrfqCgKzjRkQWKa081LKnu6BdeX6onvLD4w130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:50+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" .
}