@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP767400.RAUj-oMKSPgaxZt8W_RPUjM5HEjd8dHYgyd_7I-a37l3o
> .
@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:NP767400.RAUj-oMKSPgaxZt8W_RPUjM5HEjd8dHYgyd_7I-a37l3o130_head
{
this:
np:hasAssertion
dgn-np:NP767400.RAUj-oMKSPgaxZt8W_RPUjM5HEjd8dHYgyd_7I-a37l3o130_assertion
;
np:hasProvenance
dgn-np:NP767400.RAUj-oMKSPgaxZt8W_RPUjM5HEjd8dHYgyd_7I-a37l3o130_provenance
;
np:hasPublicationInfo
dgn-np:NP767400.RAUj-oMKSPgaxZt8W_RPUjM5HEjd8dHYgyd_7I-a37l3o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP767400.RAUj-oMKSPgaxZt8W_RPUjM5HEjd8dHYgyd_7I-a37l3o130_assertion
a
np:Assertion
.
dgn-np:NP767400.RAUj-oMKSPgaxZt8W_RPUjM5HEjd8dHYgyd_7I-a37l3o130_provenance
a
np:Provenance
.
dgn-np:NP767400.RAUj-oMKSPgaxZt8W_RPUjM5HEjd8dHYgyd_7I-a37l3o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP767400.RAUj-oMKSPgaxZt8W_RPUjM5HEjd8dHYgyd_7I-a37l3o130_assertion
{
miriam-gene:2299
a
ncit:C16612
.
lld:C0271829
a
ncit:C7057
.
dgn-gda:DGN0072df9f25f5c5b8ad88ab7fb3ebdd93
sio:SIO_000628
miriam-gene:2299
,
lld:C0271829
;
a
sio:SIO_001121
.
}
dgn-np:NP767400.RAUj-oMKSPgaxZt8W_RPUjM5HEjd8dHYgyd_7I-a37l3o130_provenance
{
dgn-np:NP767400.RAUj-oMKSPgaxZt8W_RPUjM5HEjd8dHYgyd_7I-a37l3o130_assertion
dcterms:description
"[To elucidate the genetic composition of nonsyndromic EVA and Pendred syndrome, we screened related genomic fragments, including the SLC26A4 coding regions, the SLC26A4 promoter and the FOXI1 transcription factor gene, in 101 Taiwanese families, and analyzed their phenotypic and genotypic results.]. 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:19648736
;
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:NP767400.RAUj-oMKSPgaxZt8W_RPUjM5HEjd8dHYgyd_7I-a37l3o130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:44+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" .
}