@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1263142.RA6JZ6NU2YOs1sgiksQeC5NQmcTS-qkCSvKEFk1V1pv7o
> .
@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:NP1263142.RA6JZ6NU2YOs1sgiksQeC5NQmcTS-qkCSvKEFk1V1pv7o130_head
{
this:
np:hasAssertion
dgn-np:NP1263142.RA6JZ6NU2YOs1sgiksQeC5NQmcTS-qkCSvKEFk1V1pv7o130_assertion
;
np:hasProvenance
dgn-np:NP1263142.RA6JZ6NU2YOs1sgiksQeC5NQmcTS-qkCSvKEFk1V1pv7o130_provenance
;
np:hasPublicationInfo
dgn-np:NP1263142.RA6JZ6NU2YOs1sgiksQeC5NQmcTS-qkCSvKEFk1V1pv7o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1263142.RA6JZ6NU2YOs1sgiksQeC5NQmcTS-qkCSvKEFk1V1pv7o130_assertion
a
np:Assertion
.
dgn-np:NP1263142.RA6JZ6NU2YOs1sgiksQeC5NQmcTS-qkCSvKEFk1V1pv7o130_provenance
a
np:Provenance
.
dgn-np:NP1263142.RA6JZ6NU2YOs1sgiksQeC5NQmcTS-qkCSvKEFk1V1pv7o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1263142.RA6JZ6NU2YOs1sgiksQeC5NQmcTS-qkCSvKEFk1V1pv7o130_assertion
{
miriam-gene:405753
a
ncit:C16612
.
lld:C0018021
a
ncit:C7057
.
dgn-gda:DGNa5f411effbd2aee6d5e515e720f77552
sio:SIO_000628
miriam-gene:405753
,
lld:C0018021
;
a
sio:SIO_001122
.
}
dgn-np:NP1263142.RA6JZ6NU2YOs1sgiksQeC5NQmcTS-qkCSvKEFk1V1pv7o130_provenance
{
dgn-np:NP1263142.RA6JZ6NU2YOs1sgiksQeC5NQmcTS-qkCSvKEFk1V1pv7o130_assertion
dcterms:description
"[We identified a novel DUOXA2 mutation (I26M) causing CH with goiter, which affected H2O2 generation but did not alter the protein expression levels, further confirming the essential role of DUOXA2 in thyroid hormone synthesis.]. 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:25675383
;
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:NP1263142.RA6JZ6NU2YOs1sgiksQeC5NQmcTS-qkCSvKEFk1V1pv7o130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:18+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" .
}