@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP507658.RAYdruB6cBaY9phFGkBxVJ2f-6I_VqlysTJECumraGp8s
> .
@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:NP507658.RAYdruB6cBaY9phFGkBxVJ2f-6I_VqlysTJECumraGp8s130_head
{
this:
np:hasAssertion
dgn-np:NP507658.RAYdruB6cBaY9phFGkBxVJ2f-6I_VqlysTJECumraGp8s130_assertion
;
np:hasProvenance
dgn-np:NP507658.RAYdruB6cBaY9phFGkBxVJ2f-6I_VqlysTJECumraGp8s130_provenance
;
np:hasPublicationInfo
dgn-np:NP507658.RAYdruB6cBaY9phFGkBxVJ2f-6I_VqlysTJECumraGp8s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP507658.RAYdruB6cBaY9phFGkBxVJ2f-6I_VqlysTJECumraGp8s130_assertion
a
np:Assertion
.
dgn-np:NP507658.RAYdruB6cBaY9phFGkBxVJ2f-6I_VqlysTJECumraGp8s130_provenance
a
np:Provenance
.
dgn-np:NP507658.RAYdruB6cBaY9phFGkBxVJ2f-6I_VqlysTJECumraGp8s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP507658.RAYdruB6cBaY9phFGkBxVJ2f-6I_VqlysTJECumraGp8s130_assertion
{
miriam-gene:5290
a
ncit:C16612
.
lld:C0022603
a
ncit:C7057
.
dgn-gda:DGN00431e114749e08cd8108985f15f1382
sio:SIO_000628
miriam-gene:5290
,
lld:C0022603
;
a
sio:SIO_001121
.
}
dgn-np:NP507658.RAYdruB6cBaY9phFGkBxVJ2f-6I_VqlysTJECumraGp8s130_provenance
{
dgn-np:NP507658.RAYdruB6cBaY9phFGkBxVJ2f-6I_VqlysTJECumraGp8s130_assertion
dcterms:description
"[Because FGFR3 and PIK3CA germline mutations can be excluded as an underlying genetic basis, alternative mechanisms have to contribute to familial SK such as inherited susceptibility factors predisposing to the acquisition of somatic FGFR3 and PIK3CA mutations in skin, or increased exposure of the family members to yet unknown environmental risk factors causing these mutations.]. 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:18503601
;
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:NP507658.RAYdruB6cBaY9phFGkBxVJ2f-6I_VqlysTJECumraGp8s130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:02+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" .
}