@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM
> .
@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:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_head
{
this:
np:hasAssertion
dgn-np:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_assertion
;
np:hasProvenance
dgn-np:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_provenance
;
np:hasPublicationInfo
dgn-np:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_assertion
a
np:Assertion
.
dgn-np:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_provenance
a
np:Provenance
.
dgn-np:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_assertion
{
miriam-gene:2707
a
ncit:C16612
.
lld:C0265961
a
ncit:C7057
.
dgn-gda:DGN47516e2636af09d9f6ad4963fb3a8929
sio:SIO_000628
miriam-gene:2707
,
lld:C0265961
;
a
sio:SIO_001121
.
}
dgn-np:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_provenance
{
dgn-np:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_assertion
dcterms:description
"[There is now a considerable overlap with other gap junction disorders and we propose that some cases of erythrokeratodermia variabilis without mutations in either GJB3 or GJB4 but with deafness may be caused by mutations in GJB2.]. 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:16280295
;
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:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:48+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: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" .
}