@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU
> .
@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:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_head
{
this:
np:hasAssertion
dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_assertion
;
np:hasProvenance
dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_provenance
;
np:hasPublicationInfo
dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_assertion
a
np:Assertion
.
dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_provenance
a
np:Provenance
.
dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_assertion
{
miriam-gene:5727
a
ncit:C16612
.
lld:C0376634
a
ncit:C7057
.
dgn-gda:DGN161171e3aa26761e14ac441c3022bbb7
sio:SIO_000628
miriam-gene:5727
,
lld:C0376634
;
a
sio:SIO_001121
.
}
dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_provenance
{
dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_assertion
dcterms:description
"[This variant was absent in the NBCCS patient that did not develop basal cell carcinomas, suggesting that this variant could have favored the development of skin cancers, in patients carrying the PTCH1 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:18539553
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:11+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" .
}