@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP553340.RAMVopY2lxfo50EWRrk4ObR5qrB2w8nvYKumk5ztJtYVs
> .
@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:NP553340.RAMVopY2lxfo50EWRrk4ObR5qrB2w8nvYKumk5ztJtYVs130_head
{
this:
np:hasAssertion
dgn-np:NP553340.RAMVopY2lxfo50EWRrk4ObR5qrB2w8nvYKumk5ztJtYVs130_assertion
;
np:hasProvenance
dgn-np:NP553340.RAMVopY2lxfo50EWRrk4ObR5qrB2w8nvYKumk5ztJtYVs130_provenance
;
np:hasPublicationInfo
dgn-np:NP553340.RAMVopY2lxfo50EWRrk4ObR5qrB2w8nvYKumk5ztJtYVs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP553340.RAMVopY2lxfo50EWRrk4ObR5qrB2w8nvYKumk5ztJtYVs130_assertion
a
np:Assertion
.
dgn-np:NP553340.RAMVopY2lxfo50EWRrk4ObR5qrB2w8nvYKumk5ztJtYVs130_provenance
a
np:Provenance
.
dgn-np:NP553340.RAMVopY2lxfo50EWRrk4ObR5qrB2w8nvYKumk5ztJtYVs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP553340.RAMVopY2lxfo50EWRrk4ObR5qrB2w8nvYKumk5ztJtYVs130_assertion
{
miriam-gene:55653
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGNb63029981d3b9546a2df8447b6aade2e
sio:SIO_000628
miriam-gene:55653
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP553340.RAMVopY2lxfo50EWRrk4ObR5qrB2w8nvYKumk5ztJtYVs130_provenance
{
dgn-np:NP553340.RAMVopY2lxfo50EWRrk4ObR5qrB2w8nvYKumk5ztJtYVs130_assertion
dcterms:description
"[In this patient, four genes (MOCS3, DPM1, ADNP, BCAS4) are deleted, which were not affected in the other three cases, suggesting that the deletion of one or more of these genes contributes to the mental retardation.]. 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:17623483
;
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:NP553340.RAMVopY2lxfo50EWRrk4ObR5qrB2w8nvYKumk5ztJtYVs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:33+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" .
}