@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ
> .
@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:NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_head
{
this:
np:hasAssertion
dgn-np:NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_assertion
;
np:hasProvenance
dgn-np:NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_assertion
a
np:Assertion
.
dgn-np:NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_provenance
a
np:Provenance
.
dgn-np:NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_assertion
{
miriam-gene:1654
a
ncit:C16612
.
lld:C0026827
a
ncit:C7057
.
dgn-gda:DGNa9356a11393aaa81863b9c18a999fa67
sio:SIO_000628
miriam-gene:1654
,
lld:C0026827
;
a
sio:SIO_001121
.
}
dgn-np:NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_provenance
{
dgn-np:NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_assertion
dcterms:description
"[In this study we present 35 unique deleterious de novo mutations in DDX3X identified by whole exome sequencing in 38 females with ID and various other features including hypotonia, movement disorders, behavior problems, corpus callosum hypoplasia, and epilepsy.]. 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:26235985
;
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:NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:31+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: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" .
}