@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs
> .
@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:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_head
{
this:
np:hasAssertion
dgn-np:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_assertion
;
np:hasProvenance
dgn-np:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_provenance
;
np:hasPublicationInfo
dgn-np:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_assertion
a
np:Assertion
.
dgn-np:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_provenance
a
np:Provenance
.
dgn-np:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_assertion
{
miriam-gene:2707
a
ncit:C16612
.
lld:C0265961
a
ncit:C7057
.
dgn-gda:DGN101b39b9cd5bc1a5fed0e8e08276eed2
sio:SIO_000628
miriam-gene:2707
,
lld:C0265961
;
a
sio:SIO_001121
.
}
dgn-np:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_provenance
{
dgn-np:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_assertion
dcterms:description
"[Erythrokeratodermia variabilis et progressiva (EKVP) is a genodermatosis with clinical and genetic heterogeneity, most often transmitted in an autosomal dominant manner, caused by mutations in GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3, respectively.In this issue, Boyden et al.]. 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:25964267
;
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:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:28+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" .
}