@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP482634.RA0hdk_DhAUm5xe3r1WDKNN6JIDcF5FDfUHRlCe1n5vvg
> .
@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:NP482634.RA0hdk_DhAUm5xe3r1WDKNN6JIDcF5FDfUHRlCe1n5vvg130_head
{
this:
np:hasAssertion
dgn-np:NP482634.RA0hdk_DhAUm5xe3r1WDKNN6JIDcF5FDfUHRlCe1n5vvg130_assertion
;
np:hasProvenance
dgn-np:NP482634.RA0hdk_DhAUm5xe3r1WDKNN6JIDcF5FDfUHRlCe1n5vvg130_provenance
;
np:hasPublicationInfo
dgn-np:NP482634.RA0hdk_DhAUm5xe3r1WDKNN6JIDcF5FDfUHRlCe1n5vvg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP482634.RA0hdk_DhAUm5xe3r1WDKNN6JIDcF5FDfUHRlCe1n5vvg130_assertion
a
np:Assertion
.
dgn-np:NP482634.RA0hdk_DhAUm5xe3r1WDKNN6JIDcF5FDfUHRlCe1n5vvg130_provenance
a
np:Provenance
.
dgn-np:NP482634.RA0hdk_DhAUm5xe3r1WDKNN6JIDcF5FDfUHRlCe1n5vvg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP482634.RA0hdk_DhAUm5xe3r1WDKNN6JIDcF5FDfUHRlCe1n5vvg130_assertion
{
miriam-gene:2707
a
ncit:C16612
.
lld:C0265961
a
ncit:C7057
.
dgn-gda:DGNb31b68772a2674d27358c6de7a480260
sio:SIO_000628
miriam-gene:2707
,
lld:C0265961
;
a
sio:SIO_001121
.
}
dgn-np:NP482634.RA0hdk_DhAUm5xe3r1WDKNN6JIDcF5FDfUHRlCe1n5vvg130_provenance
{
dgn-np:NP482634.RA0hdk_DhAUm5xe3r1WDKNN6JIDcF5FDfUHRlCe1n5vvg130_assertion
dcterms:description
"[Mutations associated with EKV have been identified in the connexin (Cx) genes GJB3 (Cx31) and GJB4 (Cx30.3), however, several cases of EKV have been tested negative for mutations in these two Cx genes.]. 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:22266302
;
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:NP482634.RA0hdk_DhAUm5xe3r1WDKNN6JIDcF5FDfUHRlCe1n5vvg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:48+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" .
}