@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP558633.RAFyzpWTIXcE5OpnhJh8YgDQRupfyaOjt0F6gTq9g3RhI
> .
@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:NP558633.RAFyzpWTIXcE5OpnhJh8YgDQRupfyaOjt0F6gTq9g3RhI130_head
{
this:
np:hasAssertion
dgn-np:NP558633.RAFyzpWTIXcE5OpnhJh8YgDQRupfyaOjt0F6gTq9g3RhI130_assertion
;
np:hasProvenance
dgn-np:NP558633.RAFyzpWTIXcE5OpnhJh8YgDQRupfyaOjt0F6gTq9g3RhI130_provenance
;
np:hasPublicationInfo
dgn-np:NP558633.RAFyzpWTIXcE5OpnhJh8YgDQRupfyaOjt0F6gTq9g3RhI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP558633.RAFyzpWTIXcE5OpnhJh8YgDQRupfyaOjt0F6gTq9g3RhI130_assertion
a
np:Assertion
.
dgn-np:NP558633.RAFyzpWTIXcE5OpnhJh8YgDQRupfyaOjt0F6gTq9g3RhI130_provenance
a
np:Provenance
.
dgn-np:NP558633.RAFyzpWTIXcE5OpnhJh8YgDQRupfyaOjt0F6gTq9g3RhI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP558633.RAFyzpWTIXcE5OpnhJh8YgDQRupfyaOjt0F6gTq9g3RhI130_assertion
{
miriam-gene:675
a
ncit:C16612
.
lld:C0015625
a
ncit:C7057
.
dgn-gda:DGNdb7a4073a9a91baae73235755e4a9525
sio:SIO_000628
miriam-gene:675
,
lld:C0015625
;
a
sio:SIO_001121
.
}
dgn-np:NP558633.RAFyzpWTIXcE5OpnhJh8YgDQRupfyaOjt0F6gTq9g3RhI130_provenance
{
dgn-np:NP558633.RAFyzpWTIXcE5OpnhJh8YgDQRupfyaOjt0F6gTq9g3RhI130_assertion
dcterms:description
"[The small group of patients with biallelic mutations in BRCA2 is distinctive in the severity of the phenotype, and early onset and high rates of leukaemia and specific solid tumours, and may comprise an extreme variant of Fanconi anaemia.]. 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:16825431
;
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:NP558633.RAFyzpWTIXcE5OpnhJh8YgDQRupfyaOjt0F6gTq9g3RhI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:58+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" .
}