@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP325545.RAEu00SXaKh40oSJDDgzqireF7ngmCWOZrTwo-I0F6CqM
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP325545.RAEu00SXaKh40oSJDDgzqireF7ngmCWOZrTwo-I0F6CqM130_assertion
;
np:hasProvenance
dgn-np:NP325545.RAEu00SXaKh40oSJDDgzqireF7ngmCWOZrTwo-I0F6CqM130_provenance
;
np:hasPublicationInfo
dgn-np:NP325545.RAEu00SXaKh40oSJDDgzqireF7ngmCWOZrTwo-I0F6CqM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP325545.RAEu00SXaKh40oSJDDgzqireF7ngmCWOZrTwo-I0F6CqM130_assertion
a
np:Assertion
.
dgn-np:NP325545.RAEu00SXaKh40oSJDDgzqireF7ngmCWOZrTwo-I0F6CqM130_provenance
a
np:Provenance
.
dgn-np:NP325545.RAEu00SXaKh40oSJDDgzqireF7ngmCWOZrTwo-I0F6CqM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP325545.RAEu00SXaKh40oSJDDgzqireF7ngmCWOZrTwo-I0F6CqM130_assertion
{
miriam-gene:7369
a
ncit:C16612
.
lld:C0268113
a
ncit:C7057
.
dgn-gda:DGNb43eedeecbb03eeaf117cd58c9f6023c
sio:SIO_000628
miriam-gene:7369
,
lld:C0268113
;
a
sio:SIO_001121
.
}
dgn-np:NP325545.RAEu00SXaKh40oSJDDgzqireF7ngmCWOZrTwo-I0F6CqM130_provenance
{
dgn-np:NP325545.RAEu00SXaKh40oSJDDgzqireF7ngmCWOZrTwo-I0F6CqM130_assertion
dcterms:description
"[Our results suggested that the novel uromodulin mutations found in the Chinese families lead to misfolded protein, which was retained in the endoplasmic reticulum, finally contributed to the phenotype of FJHN.]. 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:23988501
;
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:NP325545.RAEu00SXaKh40oSJDDgzqireF7ngmCWOZrTwo-I0F6CqM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:10+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" .
}