@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP891406.RASBi7knWmMVxEIUsc_hK8CwlMsATdVQmyJBgFYWYykcw
> .
@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:NP891406.RASBi7knWmMVxEIUsc_hK8CwlMsATdVQmyJBgFYWYykcw130_head
{
this:
np:hasAssertion
dgn-np:NP891406.RASBi7knWmMVxEIUsc_hK8CwlMsATdVQmyJBgFYWYykcw130_assertion
;
np:hasProvenance
dgn-np:NP891406.RASBi7knWmMVxEIUsc_hK8CwlMsATdVQmyJBgFYWYykcw130_provenance
;
np:hasPublicationInfo
dgn-np:NP891406.RASBi7knWmMVxEIUsc_hK8CwlMsATdVQmyJBgFYWYykcw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP891406.RASBi7knWmMVxEIUsc_hK8CwlMsATdVQmyJBgFYWYykcw130_assertion
a
np:Assertion
.
dgn-np:NP891406.RASBi7knWmMVxEIUsc_hK8CwlMsATdVQmyJBgFYWYykcw130_provenance
a
np:Provenance
.
dgn-np:NP891406.RASBi7knWmMVxEIUsc_hK8CwlMsATdVQmyJBgFYWYykcw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP891406.RASBi7knWmMVxEIUsc_hK8CwlMsATdVQmyJBgFYWYykcw130_assertion
{
miriam-gene:4204
a
ncit:C16612
.
lld:C1846058
a
ncit:C7057
.
dgn-gda:DGNe90d3269fa35fd77dbee671560137a1f
sio:SIO_000628
miriam-gene:4204
,
lld:C1846058
;
a
sio:SIO_001121
.
}
dgn-np:NP891406.RASBi7knWmMVxEIUsc_hK8CwlMsATdVQmyJBgFYWYykcw130_provenance
{
dgn-np:NP891406.RASBi7knWmMVxEIUsc_hK8CwlMsATdVQmyJBgFYWYykcw130_assertion
dcterms:description
"[This rearrangement implies triplication of the MECP2 and IRAK1 genes, but it does not span other proximal genes located in the common minimal region of patients affected by the MECP2 duplication syndrome.]. 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:21934280
;
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:NP891406.RASBi7knWmMVxEIUsc_hK8CwlMsATdVQmyJBgFYWYykcw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:08+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" .
}