@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP674028.RAau5x6OINlRZnJCIXFaG00WEWQXwVMvqs5LDjIu1AgmQ
> .
@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:NP674028.RAau5x6OINlRZnJCIXFaG00WEWQXwVMvqs5LDjIu1AgmQ130_head
{
this:
np:hasAssertion
dgn-np:NP674028.RAau5x6OINlRZnJCIXFaG00WEWQXwVMvqs5LDjIu1AgmQ130_assertion
;
np:hasProvenance
dgn-np:NP674028.RAau5x6OINlRZnJCIXFaG00WEWQXwVMvqs5LDjIu1AgmQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP674028.RAau5x6OINlRZnJCIXFaG00WEWQXwVMvqs5LDjIu1AgmQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP674028.RAau5x6OINlRZnJCIXFaG00WEWQXwVMvqs5LDjIu1AgmQ130_assertion
a
np:Assertion
.
dgn-np:NP674028.RAau5x6OINlRZnJCIXFaG00WEWQXwVMvqs5LDjIu1AgmQ130_provenance
a
np:Provenance
.
dgn-np:NP674028.RAau5x6OINlRZnJCIXFaG00WEWQXwVMvqs5LDjIu1AgmQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP674028.RAau5x6OINlRZnJCIXFaG00WEWQXwVMvqs5LDjIu1AgmQ130_assertion
{
miriam-gene:261734
a
ncit:C16612
.
lld:C0271270
a
ncit:C7057
.
dgn-gda:DGN16ad9df37587908dc700e06f5ce88a81
sio:SIO_000628
miriam-gene:261734
,
lld:C0271270
;
a
sio:SIO_001121
.
}
dgn-np:NP674028.RAau5x6OINlRZnJCIXFaG00WEWQXwVMvqs5LDjIu1AgmQ130_provenance
{
dgn-np:NP674028.RAau5x6OINlRZnJCIXFaG00WEWQXwVMvqs5LDjIu1AgmQ130_assertion
dcterms:description
"[To determine the frequency of NPHP4 mutations, we performed mutational analysis by direct sequencing of all 30 NPHP4 exons in 250 different patients with isolated NPH, SLS, or Cogan syndrome ascertained worldwide over 14 years.]. 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:15776426
;
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:NP674028.RAau5x6OINlRZnJCIXFaG00WEWQXwVMvqs5LDjIu1AgmQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:47+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" .
}