@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc
> .
@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/v3.0.0/void/
> .
dgn-np:NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_head
{
this:
np:hasAssertion
dgn-np:NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_assertion
;
np:hasProvenance
dgn-np:NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_provenance
;
np:hasPublicationInfo
dgn-np:NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_assertion
a
np:Assertion
.
dgn-np:NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_provenance
a
np:Provenance
.
dgn-np:NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_assertion
{
miriam-gene:7038
a
ncit:C16612
.
lld:C0020676
a
ncit:C7057
.
dgn-gda:DGNfa472f463d8ffad00d3a7fd630c9f14c
sio:SIO_000628
miriam-gene:7038
,
lld:C0020676
;
a
sio:SIO_001122
.
}
dgn-np:NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_provenance
{
dgn-np:NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_assertion
dcterms:description
"[Two novel mutations have been detected, and we show that TG mutation p.A2215D promotes the retention of TG within the endoplasmic reticulum and reduces TG synthesis and secretion, causing mild hypothyroidism.]. 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:19509106
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:45:01+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}