@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA
> .
@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:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_head
{
this:
np:hasAssertion
dgn-np:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_assertion
;
np:hasProvenance
dgn-np:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_provenance
;
np:hasPublicationInfo
dgn-np:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_assertion
a
np:Assertion
.
dgn-np:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_provenance
a
np:Provenance
.
dgn-np:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_assertion
{
miriam-gene:5308
a
ncit:C16612
.
lld:C0010068
a
ncit:C7057
.
dgn-gda:DGNc1597d5d37fa4859935e0c0894327d9b
sio:SIO_000628
miriam-gene:5308
,
lld:C0010068
;
a
sio:SIO_001121
.
}
dgn-np:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_provenance
{
dgn-np:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_assertion
dcterms:description
"[In the present study, the coding exons and flanking introns of the PITX2 gene, which encodes a paired-like homeodomain transcription factor 2essential for cardiovascular morphogenesis as well as maxillary facial development, was sequenced in 196 unrelated patients with CHD and subsequently in the mutation carrier's family members available.]. 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:25893250
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:26+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" .
}