@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP223916.RA341lKeM3sbreRrOcveBO6TUb9GJAUMtdy0n0y872LvQ
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP223916.RA341lKeM3sbreRrOcveBO6TUb9GJAUMtdy0n0y872LvQ130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP223916.RA341lKeM3sbreRrOcveBO6TUb9GJAUMtdy0n0y872LvQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP223916.RA341lKeM3sbreRrOcveBO6TUb9GJAUMtdy0n0y872LvQ130_assertion
a
np:Assertion
.
dgn-np:NP223916.RA341lKeM3sbreRrOcveBO6TUb9GJAUMtdy0n0y872LvQ130_provenance
a
np:Provenance
.
dgn-np:NP223916.RA341lKeM3sbreRrOcveBO6TUb9GJAUMtdy0n0y872LvQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP223916.RA341lKeM3sbreRrOcveBO6TUb9GJAUMtdy0n0y872LvQ130_assertion
{
miriam-gene:1806
a
ncit:C16612
.
lld:C0241210
a
ncit:C7057
.
dgn-gda:DGN6cd94bfc69170b2dd069b43c81764219
sio:SIO_000628
miriam-gene:1806
,
lld:C0241210
;
a
sio:SIO_001121
.
}
dgn-np:NP223916.RA341lKeM3sbreRrOcveBO6TUb9GJAUMtdy0n0y872LvQ130_provenance
{
dgn-np:NP223916.RA341lKeM3sbreRrOcveBO6TUb9GJAUMtdy0n0y872LvQ130_assertion
dcterms:description
"[Our study suggests that hemizygous deletions involving the DPYD locus present with variable phenotypes which can include speech delay and autistic features, and may also be influenced by additional mutations in other genes, issues which need to be considered in genetic counseling.]. 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:21114665
;
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:NP223916.RA341lKeM3sbreRrOcveBO6TUb9GJAUMtdy0n0y872LvQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:04+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" .
}