@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP69759.RADQVLdg8htjh-wqBmyxwWO_r3ajSweVg7KmoqplbDCWU
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP69759.RADQVLdg8htjh-wqBmyxwWO_r3ajSweVg7KmoqplbDCWU130_head
{
this:
np:hasAssertion
dgn-np:NP69759.RADQVLdg8htjh-wqBmyxwWO_r3ajSweVg7KmoqplbDCWU130_assertion
;
np:hasProvenance
dgn-np:NP69759.RADQVLdg8htjh-wqBmyxwWO_r3ajSweVg7KmoqplbDCWU130_provenance
;
np:hasPublicationInfo
dgn-np:NP69759.RADQVLdg8htjh-wqBmyxwWO_r3ajSweVg7KmoqplbDCWU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP69759.RADQVLdg8htjh-wqBmyxwWO_r3ajSweVg7KmoqplbDCWU130_assertion
a
np:Assertion
.
dgn-np:NP69759.RADQVLdg8htjh-wqBmyxwWO_r3ajSweVg7KmoqplbDCWU130_provenance
a
np:Provenance
.
dgn-np:NP69759.RADQVLdg8htjh-wqBmyxwWO_r3ajSweVg7KmoqplbDCWU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP69759.RADQVLdg8htjh-wqBmyxwWO_r3ajSweVg7KmoqplbDCWU130_assertion
{
miriam-gene:4524
a
ncit:C16612
.
lld:C2675023
a
ncit:C7057
.
dgn-gda:DGN62b05e5363e5251686ad14516fd9b129
sio:SIO_000628
miriam-gene:4524
,
lld:C2675023
;
a
sio:SIO_001122
.
}
dgn-np:NP69759.RADQVLdg8htjh-wqBmyxwWO_r3ajSweVg7KmoqplbDCWU130_provenance
{
dgn-np:NP69759.RADQVLdg8htjh-wqBmyxwWO_r3ajSweVg7KmoqplbDCWU130_assertion
dcterms:description
"[ Fifty percent of these isolated congenital cardiac defects were associated with either the C677T MTHFR mutation or elevated amniotic fluid homocysteine levels, or both. This finding adds to what is already known about the multiple and complex biochemical]. 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:11303187
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP69759.RADQVLdg8htjh-wqBmyxwWO_r3ajSweVg7KmoqplbDCWU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:42:20+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}