@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP592698.RA4TQr8xebJw0N2hsv0QTwq4-RB2J1mIxmUXogxurc63Y
> .
@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:NP592698.RA4TQr8xebJw0N2hsv0QTwq4-RB2J1mIxmUXogxurc63Y130_head
{
this:
np:hasAssertion
dgn-np:NP592698.RA4TQr8xebJw0N2hsv0QTwq4-RB2J1mIxmUXogxurc63Y130_assertion
;
np:hasProvenance
dgn-np:NP592698.RA4TQr8xebJw0N2hsv0QTwq4-RB2J1mIxmUXogxurc63Y130_provenance
;
np:hasPublicationInfo
dgn-np:NP592698.RA4TQr8xebJw0N2hsv0QTwq4-RB2J1mIxmUXogxurc63Y130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP592698.RA4TQr8xebJw0N2hsv0QTwq4-RB2J1mIxmUXogxurc63Y130_assertion
a
np:Assertion
.
dgn-np:NP592698.RA4TQr8xebJw0N2hsv0QTwq4-RB2J1mIxmUXogxurc63Y130_provenance
a
np:Provenance
.
dgn-np:NP592698.RA4TQr8xebJw0N2hsv0QTwq4-RB2J1mIxmUXogxurc63Y130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP592698.RA4TQr8xebJw0N2hsv0QTwq4-RB2J1mIxmUXogxurc63Y130_assertion
{
miriam-gene:3342
a
ncit:C16612
.
lld:C1458156
a
ncit:C7057
.
dgn-gda:DGN5b077cb5438965d11602c459b3bd9b8a
sio:SIO_000628
miriam-gene:3342
,
lld:C1458156
;
a
sio:SIO_001121
.
}
dgn-np:NP592698.RA4TQr8xebJw0N2hsv0QTwq4-RB2J1mIxmUXogxurc63Y130_provenance
{
dgn-np:NP592698.RA4TQr8xebJw0N2hsv0QTwq4-RB2J1mIxmUXogxurc63Y130_assertion
dcterms:description
"[We conclude that phenotypes similar to FS can be caused by submicroscopic chromosome deletions and that high resolution karyotyping, including array CGH if possible, should be performed prior to the diagnosis of FS to provide an accurate recurrence risk in patients with CDH and physical anomalies consistent with FS.]. 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:16141010
;
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:NP592698.RA4TQr8xebJw0N2hsv0QTwq4-RB2J1mIxmUXogxurc63Y130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:56+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" .
}