@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP388147.RANVS518EaKjn2U-S_TmQbqNimLgzelmnlbdc8HXjiZl4
> .
@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:NP388147.RANVS518EaKjn2U-S_TmQbqNimLgzelmnlbdc8HXjiZl4130_head
{
this:
np:hasAssertion
dgn-np:NP388147.RANVS518EaKjn2U-S_TmQbqNimLgzelmnlbdc8HXjiZl4130_assertion
;
np:hasProvenance
dgn-np:NP388147.RANVS518EaKjn2U-S_TmQbqNimLgzelmnlbdc8HXjiZl4130_provenance
;
np:hasPublicationInfo
dgn-np:NP388147.RANVS518EaKjn2U-S_TmQbqNimLgzelmnlbdc8HXjiZl4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP388147.RANVS518EaKjn2U-S_TmQbqNimLgzelmnlbdc8HXjiZl4130_assertion
a
np:Assertion
.
dgn-np:NP388147.RANVS518EaKjn2U-S_TmQbqNimLgzelmnlbdc8HXjiZl4130_provenance
a
np:Provenance
.
dgn-np:NP388147.RANVS518EaKjn2U-S_TmQbqNimLgzelmnlbdc8HXjiZl4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP388147.RANVS518EaKjn2U-S_TmQbqNimLgzelmnlbdc8HXjiZl4130_assertion
{
miriam-gene:50947
a
ncit:C16612
.
lld:C1527249
a
ncit:C7057
.
dgn-gda:DGN5673a17866792514049bda8870d9a61a
sio:SIO_000628
miriam-gene:50947
,
lld:C1527249
;
a
sio:SIO_001121
.
}
dgn-np:NP388147.RANVS518EaKjn2U-S_TmQbqNimLgzelmnlbdc8HXjiZl4130_provenance
{
dgn-np:NP388147.RANVS518EaKjn2U-S_TmQbqNimLgzelmnlbdc8HXjiZl4130_assertion
dcterms:description
"[The studies investigated whether individuals with familial colorectal cancer of unknown cause might have unsuspected germline FLCN mutations, looked for somatic FLCN C(8) tract mutations in microsatellite unstable sporadic colorectal cancers, and assessed the risk of colorectal neoplasia and possible genotype-phenotype correlations in BHD patients.]. 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:20522427
;
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:NP388147.RANVS518EaKjn2U-S_TmQbqNimLgzelmnlbdc8HXjiZl4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:51+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" .
}