@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP782460.RAyOeA3YM9HfBenxjLyleC7VyQcUf6M1KDs959DW5f-ZA
> .
@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:NP782460.RAyOeA3YM9HfBenxjLyleC7VyQcUf6M1KDs959DW5f-ZA130_head
{
this:
np:hasAssertion
dgn-np:NP782460.RAyOeA3YM9HfBenxjLyleC7VyQcUf6M1KDs959DW5f-ZA130_assertion
;
np:hasProvenance
dgn-np:NP782460.RAyOeA3YM9HfBenxjLyleC7VyQcUf6M1KDs959DW5f-ZA130_provenance
;
np:hasPublicationInfo
dgn-np:NP782460.RAyOeA3YM9HfBenxjLyleC7VyQcUf6M1KDs959DW5f-ZA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP782460.RAyOeA3YM9HfBenxjLyleC7VyQcUf6M1KDs959DW5f-ZA130_assertion
a
np:Assertion
.
dgn-np:NP782460.RAyOeA3YM9HfBenxjLyleC7VyQcUf6M1KDs959DW5f-ZA130_provenance
a
np:Provenance
.
dgn-np:NP782460.RAyOeA3YM9HfBenxjLyleC7VyQcUf6M1KDs959DW5f-ZA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP782460.RAyOeA3YM9HfBenxjLyleC7VyQcUf6M1KDs959DW5f-ZA130_assertion
{
miriam-gene:2625
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGNdee5c505425d9d8546de8359f850d4ff
sio:SIO_000628
miriam-gene:2625
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP782460.RAyOeA3YM9HfBenxjLyleC7VyQcUf6M1KDs959DW5f-ZA130_provenance
{
dgn-np:NP782460.RAyOeA3YM9HfBenxjLyleC7VyQcUf6M1KDs959DW5f-ZA130_assertion
dcterms:description
"[Thus, our results, which expand the spectrum of HDR-associated GATA3 mutations and report the first acceptor splice site mutation, help to elucidate the molecular mechanisms that alter the function of this zinc finger transcription factor and its role in causing this developmental anomaly.]. 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:14985365
;
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:NP782460.RAyOeA3YM9HfBenxjLyleC7VyQcUf6M1KDs959DW5f-ZA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:54+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" .
}