@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP992324.RAq75fvLyf_Gi2GaInUl3d6nXlW408Ab8dU4VKeshaXls
> .
@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:NP992324.RAq75fvLyf_Gi2GaInUl3d6nXlW408Ab8dU4VKeshaXls130_head
{
this:
np:hasAssertion
dgn-np:NP992324.RAq75fvLyf_Gi2GaInUl3d6nXlW408Ab8dU4VKeshaXls130_assertion
;
np:hasProvenance
dgn-np:NP992324.RAq75fvLyf_Gi2GaInUl3d6nXlW408Ab8dU4VKeshaXls130_provenance
;
np:hasPublicationInfo
dgn-np:NP992324.RAq75fvLyf_Gi2GaInUl3d6nXlW408Ab8dU4VKeshaXls130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP992324.RAq75fvLyf_Gi2GaInUl3d6nXlW408Ab8dU4VKeshaXls130_assertion
a
np:Assertion
.
dgn-np:NP992324.RAq75fvLyf_Gi2GaInUl3d6nXlW408Ab8dU4VKeshaXls130_provenance
a
np:Provenance
.
dgn-np:NP992324.RAq75fvLyf_Gi2GaInUl3d6nXlW408Ab8dU4VKeshaXls130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP992324.RAq75fvLyf_Gi2GaInUl3d6nXlW408Ab8dU4VKeshaXls130_assertion
{
miriam-gene:675
a
ncit:C16612
.
lld:C0678222
a
ncit:C7057
.
dgn-gda:DGNdaaed57e3fc1efdd41f3d34501a34c3e
sio:SIO_000628
miriam-gene:675
,
lld:C0678222
;
a
sio:SIO_001121
.
}
dgn-np:NP992324.RAq75fvLyf_Gi2GaInUl3d6nXlW408Ab8dU4VKeshaXls130_provenance
{
dgn-np:NP992324.RAq75fvLyf_Gi2GaInUl3d6nXlW408Ab8dU4VKeshaXls130_assertion
dcterms:description
"[Deleterious mutations in few genes involved in the Fanconi complex are responsible for Fanconi anemia at the homozygous state and breast cancer (BC) susceptibility at the heterozygous state (BRCA2, PALB2, BRIP1).]. 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:22725699
;
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:NP992324.RAq75fvLyf_Gi2GaInUl3d6nXlW408Ab8dU4VKeshaXls130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:15+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" .
}