@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP234624.RAVjGIl87OFfNeOzRlaTK50T7MRm92i-7cMQM_qpJvZxU
> .
@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:NP234624.RAVjGIl87OFfNeOzRlaTK50T7MRm92i-7cMQM_qpJvZxU130_head
{
this:
np:hasAssertion
dgn-np:NP234624.RAVjGIl87OFfNeOzRlaTK50T7MRm92i-7cMQM_qpJvZxU130_assertion
;
np:hasProvenance
dgn-np:NP234624.RAVjGIl87OFfNeOzRlaTK50T7MRm92i-7cMQM_qpJvZxU130_provenance
;
np:hasPublicationInfo
dgn-np:NP234624.RAVjGIl87OFfNeOzRlaTK50T7MRm92i-7cMQM_qpJvZxU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP234624.RAVjGIl87OFfNeOzRlaTK50T7MRm92i-7cMQM_qpJvZxU130_assertion
a
np:Assertion
.
dgn-np:NP234624.RAVjGIl87OFfNeOzRlaTK50T7MRm92i-7cMQM_qpJvZxU130_provenance
a
np:Provenance
.
dgn-np:NP234624.RAVjGIl87OFfNeOzRlaTK50T7MRm92i-7cMQM_qpJvZxU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP234624.RAVjGIl87OFfNeOzRlaTK50T7MRm92i-7cMQM_qpJvZxU130_assertion
{
miriam-gene:796
a
ncit:C16612
.
lld:C1707446
a
ncit:C7057
.
dgn-gda:DGNdf7ac97f0eb1ba8811893ac8ec029765
sio:SIO_000628
miriam-gene:796
,
lld:C1707446
;
a
sio:SIO_001121
.
}
dgn-np:NP234624.RAVjGIl87OFfNeOzRlaTK50T7MRm92i-7cMQM_qpJvZxU130_provenance
{
dgn-np:NP234624.RAVjGIl87OFfNeOzRlaTK50T7MRm92i-7cMQM_qpJvZxU130_assertion
dcterms:description
"[We conclude that (1) clinical and pathological characteristics (familial MTC, tumor multifocality, neoplastic CCH) usually associated with hereditary MTC may be misleading and that on the contrary, RET sequencing gives no false positive result; (2) sporadic neoplastic CCH accompanies (and probably precedes) a number of sporadic MTC; and (3) women presenting with a sporadic elevated basal CT have a 100% risk of having an MTC (15/15), but this risk is 3-fold less in men (31%), who will most often have CCH only (69%).]. 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:12920219
;
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:NP234624.RAVjGIl87OFfNeOzRlaTK50T7MRm92i-7cMQM_qpJvZxU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:11+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" .
}