@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP827766.RASt8gIUvIjynLv76v1uj0jQ8IsZ27uGq3Fs8Oo37NbAk
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP827766.RASt8gIUvIjynLv76v1uj0jQ8IsZ27uGq3Fs8Oo37NbAk130_head
{
this:
np:hasAssertion
dgn-np:NP827766.RASt8gIUvIjynLv76v1uj0jQ8IsZ27uGq3Fs8Oo37NbAk130_assertion
;
np:hasProvenance
dgn-np:NP827766.RASt8gIUvIjynLv76v1uj0jQ8IsZ27uGq3Fs8Oo37NbAk130_provenance
;
np:hasPublicationInfo
dgn-np:NP827766.RASt8gIUvIjynLv76v1uj0jQ8IsZ27uGq3Fs8Oo37NbAk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP827766.RASt8gIUvIjynLv76v1uj0jQ8IsZ27uGq3Fs8Oo37NbAk130_assertion
a
np:Assertion
.
dgn-np:NP827766.RASt8gIUvIjynLv76v1uj0jQ8IsZ27uGq3Fs8Oo37NbAk130_provenance
a
np:Provenance
.
dgn-np:NP827766.RASt8gIUvIjynLv76v1uj0jQ8IsZ27uGq3Fs8Oo37NbAk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP827766.RASt8gIUvIjynLv76v1uj0jQ8IsZ27uGq3Fs8Oo37NbAk130_assertion
{
miriam-gene:675
a
ncit:C16612
.
lld:C0677776
a
ncit:C7057
.
dgn-gda:DGN34de789b774486a69c200c668f5bcefe
sio:SIO_000628
miriam-gene:675
,
lld:C0677776
;
a
sio:SIO_001122
.
}
dgn-np:NP827766.RASt8gIUvIjynLv76v1uj0jQ8IsZ27uGq3Fs8Oo37NbAk130_provenance
{
dgn-np:NP827766.RASt8gIUvIjynLv76v1uj0jQ8IsZ27uGq3Fs8Oo37NbAk130_assertion
dcterms:description
"[Whereas the c.156_157insAlu BRCA2 mutation was detected in 11 of 149 suspected HBOC families from Portugal, representing 37.9% of all deleterious mutations, in other countries it was detected only in one proband living in France and in four individuals requesting predictive testing living in France and in the USA, all being Portuguese immigrants.]. 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:20652400
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP827766.RASt8gIUvIjynLv76v1uj0jQ8IsZ27uGq3Fs8Oo37NbAk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:00+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}