@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP275118.RAfJ8jADF7sVdl1FEpPPv_6qB4ypmR0Fe1avDqF-JplDY
> .
@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:NP275118.RAfJ8jADF7sVdl1FEpPPv_6qB4ypmR0Fe1avDqF-JplDY130_head
{
this:
np:hasAssertion
dgn-np:NP275118.RAfJ8jADF7sVdl1FEpPPv_6qB4ypmR0Fe1avDqF-JplDY130_assertion
;
np:hasProvenance
dgn-np:NP275118.RAfJ8jADF7sVdl1FEpPPv_6qB4ypmR0Fe1avDqF-JplDY130_provenance
;
np:hasPublicationInfo
dgn-np:NP275118.RAfJ8jADF7sVdl1FEpPPv_6qB4ypmR0Fe1avDqF-JplDY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP275118.RAfJ8jADF7sVdl1FEpPPv_6qB4ypmR0Fe1avDqF-JplDY130_assertion
a
np:Assertion
.
dgn-np:NP275118.RAfJ8jADF7sVdl1FEpPPv_6qB4ypmR0Fe1avDqF-JplDY130_provenance
a
np:Provenance
.
dgn-np:NP275118.RAfJ8jADF7sVdl1FEpPPv_6qB4ypmR0Fe1avDqF-JplDY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP275118.RAfJ8jADF7sVdl1FEpPPv_6qB4ypmR0Fe1avDqF-JplDY130_assertion
{
miriam-gene:6608
a
ncit:C16612
.
lld:C0007097
a
ncit:C7057
.
dgn-gda:DGN6499d871f29b6f90f4b641d9f22970be
sio:SIO_000628
miriam-gene:6608
,
lld:C0007097
;
a
sio:SIO_001121
.
}
dgn-np:NP275118.RAfJ8jADF7sVdl1FEpPPv_6qB4ypmR0Fe1avDqF-JplDY130_provenance
{
dgn-np:NP275118.RAfJ8jADF7sVdl1FEpPPv_6qB4ypmR0Fe1avDqF-JplDY130_assertion
dcterms:description
"[In addition to those that are potential germline polymorphisms, we found three SMO missense mutations, and one PTCH1 frameshift mutation that are novel and have not been documented in basal cell carcinoma.]. 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:23349881
;
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:NP275118.RAfJ8jADF7sVdl1FEpPPv_6qB4ypmR0Fe1avDqF-JplDY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:35+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" .
}