@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP836494.RA3KB71FoNc0IqhCi-uD6_8cqT8ANBGEW_d6coOkOFXTQ
> .
@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:NP836494.RA3KB71FoNc0IqhCi-uD6_8cqT8ANBGEW_d6coOkOFXTQ130_head
{
this:
np:hasAssertion
dgn-np:NP836494.RA3KB71FoNc0IqhCi-uD6_8cqT8ANBGEW_d6coOkOFXTQ130_assertion
;
np:hasProvenance
dgn-np:NP836494.RA3KB71FoNc0IqhCi-uD6_8cqT8ANBGEW_d6coOkOFXTQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP836494.RA3KB71FoNc0IqhCi-uD6_8cqT8ANBGEW_d6coOkOFXTQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP836494.RA3KB71FoNc0IqhCi-uD6_8cqT8ANBGEW_d6coOkOFXTQ130_assertion
a
np:Assertion
.
dgn-np:NP836494.RA3KB71FoNc0IqhCi-uD6_8cqT8ANBGEW_d6coOkOFXTQ130_provenance
a
np:Provenance
.
dgn-np:NP836494.RA3KB71FoNc0IqhCi-uD6_8cqT8ANBGEW_d6coOkOFXTQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP836494.RA3KB71FoNc0IqhCi-uD6_8cqT8ANBGEW_d6coOkOFXTQ130_assertion
{
miriam-gene:728269
a
ncit:C16612
.
lld:C0019069
a
ncit:C7057
.
dgn-gda:DGNb59b6cb7f71e4af380642d979d8ec38c
sio:SIO_000628
miriam-gene:728269
,
lld:C0019069
;
a
sio:SIO_001121
.
}
dgn-np:NP836494.RA3KB71FoNc0IqhCi-uD6_8cqT8ANBGEW_d6coOkOFXTQ130_provenance
{
dgn-np:NP836494.RA3KB71FoNc0IqhCi-uD6_8cqT8ANBGEW_d6coOkOFXTQ130_assertion
dcterms:description
"[The copy number of several genes is affected by this rearrangement, with deletion of part of the Factor VIII gene (F8, causing hemophilia A) and the FUNDC2 gene, and duplication of the TMEM185A, HSFX1, MAGEA9, and MAGEA11 genes.]. 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:17683067
;
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:NP836494.RA3KB71FoNc0IqhCi-uD6_8cqT8ANBGEW_d6coOkOFXTQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:31+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" .
}