@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP561483.RA5_NcxAhgg0mVE2vbx7UtMNfhI6Gu669LlA4tBYmB_R0
> .
@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:NP561483.RA5_NcxAhgg0mVE2vbx7UtMNfhI6Gu669LlA4tBYmB_R0130_head
{
this:
np:hasAssertion
dgn-np:NP561483.RA5_NcxAhgg0mVE2vbx7UtMNfhI6Gu669LlA4tBYmB_R0130_assertion
;
np:hasProvenance
dgn-np:NP561483.RA5_NcxAhgg0mVE2vbx7UtMNfhI6Gu669LlA4tBYmB_R0130_provenance
;
np:hasPublicationInfo
dgn-np:NP561483.RA5_NcxAhgg0mVE2vbx7UtMNfhI6Gu669LlA4tBYmB_R0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP561483.RA5_NcxAhgg0mVE2vbx7UtMNfhI6Gu669LlA4tBYmB_R0130_assertion
a
np:Assertion
.
dgn-np:NP561483.RA5_NcxAhgg0mVE2vbx7UtMNfhI6Gu669LlA4tBYmB_R0130_provenance
a
np:Provenance
.
dgn-np:NP561483.RA5_NcxAhgg0mVE2vbx7UtMNfhI6Gu669LlA4tBYmB_R0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP561483.RA5_NcxAhgg0mVE2vbx7UtMNfhI6Gu669LlA4tBYmB_R0130_assertion
{
miriam-gene:4878
a
ncit:C16612
.
lld:C0152164
a
ncit:C7057
.
dgn-gda:DGN11b49ffc2159c2bb6520b7ff04fe0800
sio:SIO_000628
miriam-gene:4878
,
lld:C0152164
;
a
sio:SIO_001121
.
}
dgn-np:NP561483.RA5_NcxAhgg0mVE2vbx7UtMNfhI6Gu669LlA4tBYmB_R0130_provenance
{
dgn-np:NP561483.RA5_NcxAhgg0mVE2vbx7UtMNfhI6Gu669LlA4tBYmB_R0130_assertion
dcterms:description
"[If the mutation could be characterized, prenatal diagnosis (PND) would be performed by using DNA extracted either from the chorionic villi (CVS) or amniotic fluid fibroblast in the first trimester of pregnancy or from fetal blood in the second trimester.]. 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:8629125
;
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:NP561483.RA5_NcxAhgg0mVE2vbx7UtMNfhI6Gu669LlA4tBYmB_R0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:38+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" .
}