@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP211294.RAKZRFi9nHhfSKi4td4bTzJ6C7L7tEo2Yai8R4GXaEmG4
> .
@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:NP211294.RAKZRFi9nHhfSKi4td4bTzJ6C7L7tEo2Yai8R4GXaEmG4130_head
{
this:
np:hasAssertion
dgn-np:NP211294.RAKZRFi9nHhfSKi4td4bTzJ6C7L7tEo2Yai8R4GXaEmG4130_assertion
;
np:hasProvenance
dgn-np:NP211294.RAKZRFi9nHhfSKi4td4bTzJ6C7L7tEo2Yai8R4GXaEmG4130_provenance
;
np:hasPublicationInfo
dgn-np:NP211294.RAKZRFi9nHhfSKi4td4bTzJ6C7L7tEo2Yai8R4GXaEmG4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP211294.RAKZRFi9nHhfSKi4td4bTzJ6C7L7tEo2Yai8R4GXaEmG4130_assertion
a
np:Assertion
.
dgn-np:NP211294.RAKZRFi9nHhfSKi4td4bTzJ6C7L7tEo2Yai8R4GXaEmG4130_provenance
a
np:Provenance
.
dgn-np:NP211294.RAKZRFi9nHhfSKi4td4bTzJ6C7L7tEo2Yai8R4GXaEmG4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP211294.RAKZRFi9nHhfSKi4td4bTzJ6C7L7tEo2Yai8R4GXaEmG4130_assertion
{
miriam-gene:57057
a
ncit:C16612
.
lld:C0018818
a
ncit:C7057
.
dgn-gda:DGN4c2495e5dbc5117a360856b321fe2249
sio:SIO_000628
miriam-gene:57057
,
lld:C0018818
;
a
sio:SIO_001121
.
}
dgn-np:NP211294.RAKZRFi9nHhfSKi4td4bTzJ6C7L7tEo2Yai8R4GXaEmG4130_provenance
{
dgn-np:NP211294.RAKZRFi9nHhfSKi4td4bTzJ6C7L7tEo2Yai8R4GXaEmG4130_assertion
dcterms:description
"[A novel heterozygous variant, g.4932 G>A, was found in one VSD patient, but in none of controls, which significantly inhibited the transcriptional activities of TBX20 gene promoter, suggesting that the variant may contribute to the VSD etiology.]. 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:22465533
;
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:NP211294.RAKZRFi9nHhfSKi4td4bTzJ6C7L7tEo2Yai8R4GXaEmG4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:56+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" .
}