@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8
> .
@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:NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_head
{
this:
np:hasAssertion
dgn-np:NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_assertion
;
np:hasProvenance
dgn-np:NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_provenance
;
np:hasPublicationInfo
dgn-np:NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_assertion
a
np:Assertion
.
dgn-np:NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_provenance
a
np:Provenance
.
dgn-np:NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_assertion
{
miriam-gene:3868
a
ncit:C16612
.
lld:C0265334
a
ncit:C7057
.
dgn-gda:DGN1d7484b3c733b2ab88ceb96d183d3a71
sio:SIO_000628
miriam-gene:3868
,
lld:C0265334
;
a
sio:SIO_001122
.
}
dgn-np:NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_provenance
{
dgn-np:NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_assertion
dcterms:description
"[Four new missense and five known mutations in K6a, one new deletion and three previously identified missense mutations in K16, plus one known mutation in K17 are reported in pachyonychia congenita.]. 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:17719747
;
prov:wasDerivedFrom
dgn-void:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:20+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" .
}