@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1309676.RArACkx3_f2Tze0BsergtsTg-c-A2DWBipHgNuucAgW50
> .
@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:NP1309676.RArACkx3_f2Tze0BsergtsTg-c-A2DWBipHgNuucAgW50130_head
{
this:
np:hasAssertion
dgn-np:NP1309676.RArACkx3_f2Tze0BsergtsTg-c-A2DWBipHgNuucAgW50130_assertion
;
np:hasProvenance
dgn-np:NP1309676.RArACkx3_f2Tze0BsergtsTg-c-A2DWBipHgNuucAgW50130_provenance
;
np:hasPublicationInfo
dgn-np:NP1309676.RArACkx3_f2Tze0BsergtsTg-c-A2DWBipHgNuucAgW50130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1309676.RArACkx3_f2Tze0BsergtsTg-c-A2DWBipHgNuucAgW50130_assertion
a
np:Assertion
.
dgn-np:NP1309676.RArACkx3_f2Tze0BsergtsTg-c-A2DWBipHgNuucAgW50130_provenance
a
np:Provenance
.
dgn-np:NP1309676.RArACkx3_f2Tze0BsergtsTg-c-A2DWBipHgNuucAgW50130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1309676.RArACkx3_f2Tze0BsergtsTg-c-A2DWBipHgNuucAgW50130_assertion
{
miriam-gene:3861
a
ncit:C16612
.
lld:C0079153
a
ncit:C7057
.
dgn-gda:DGNcf6ee9d0e282136337c9b3aacd8bdeb3
sio:SIO_000628
miriam-gene:3861
,
lld:C0079153
;
a
sio:SIO_001122
.
}
dgn-np:NP1309676.RArACkx3_f2Tze0BsergtsTg-c-A2DWBipHgNuucAgW50130_provenance
{
dgn-np:NP1309676.RArACkx3_f2Tze0BsergtsTg-c-A2DWBipHgNuucAgW50130_assertion
dcterms:description
"[R162W was detected in five unrelated families and affects the corresponding residue in the keratin 14 and keratin 10 genes that is also altered in cases of epidermolysis bullosa simplex and generalised epidermolytic hyperkeratosis, respectively.]. 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:7512862
;
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:NP1309676.RArACkx3_f2Tze0BsergtsTg-c-A2DWBipHgNuucAgW50130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:39+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" .
}