@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP673093.RAoynbrDi0Nglr2XnHHr0G4QpxJnxATktQgXB-Mo2tivg
> .
@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:NP673093.RAoynbrDi0Nglr2XnHHr0G4QpxJnxATktQgXB-Mo2tivg130_head
{
this:
np:hasAssertion
dgn-np:NP673093.RAoynbrDi0Nglr2XnHHr0G4QpxJnxATktQgXB-Mo2tivg130_assertion
;
np:hasProvenance
dgn-np:NP673093.RAoynbrDi0Nglr2XnHHr0G4QpxJnxATktQgXB-Mo2tivg130_provenance
;
np:hasPublicationInfo
dgn-np:NP673093.RAoynbrDi0Nglr2XnHHr0G4QpxJnxATktQgXB-Mo2tivg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP673093.RAoynbrDi0Nglr2XnHHr0G4QpxJnxATktQgXB-Mo2tivg130_assertion
a
np:Assertion
.
dgn-np:NP673093.RAoynbrDi0Nglr2XnHHr0G4QpxJnxATktQgXB-Mo2tivg130_provenance
a
np:Provenance
.
dgn-np:NP673093.RAoynbrDi0Nglr2XnHHr0G4QpxJnxATktQgXB-Mo2tivg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP673093.RAoynbrDi0Nglr2XnHHr0G4QpxJnxATktQgXB-Mo2tivg130_assertion
{
miriam-gene:201163
a
ncit:C16612
.
lld:C1394891
a
ncit:C7057
.
dgn-gda:DGNe611fce4ccae1b6ba7a0819cf0d1d249
sio:SIO_000628
miriam-gene:201163
,
lld:C1394891
;
a
sio:SIO_001121
.
}
dgn-np:NP673093.RAoynbrDi0Nglr2XnHHr0G4QpxJnxATktQgXB-Mo2tivg130_provenance
{
dgn-np:NP673093.RAoynbrDi0Nglr2XnHHr0G4QpxJnxATktQgXB-Mo2tivg130_assertion
dcterms:description
"[Pathogenic missense and IFD FLCN mutations that impaired folliculin tumor suppressor function significantly disrupted the stability of the FLCN gene product but two missense substitutions initially considered to be putative mutations did not impair protein stability, growth suppression activity, or intracellular localization of folliculin.]. 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:21538689
;
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:NP673093.RAoynbrDi0Nglr2XnHHr0G4QpxJnxATktQgXB-Mo2tivg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:46+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" .
}