@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP579686.RA9a1B67u9gi6skcjJZnsuL7nGF7EFxgIzXyVnJWID8sY
> .
@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:NP579686.RA9a1B67u9gi6skcjJZnsuL7nGF7EFxgIzXyVnJWID8sY130_head
{
this:
np:hasAssertion
dgn-np:NP579686.RA9a1B67u9gi6skcjJZnsuL7nGF7EFxgIzXyVnJWID8sY130_assertion
;
np:hasProvenance
dgn-np:NP579686.RA9a1B67u9gi6skcjJZnsuL7nGF7EFxgIzXyVnJWID8sY130_provenance
;
np:hasPublicationInfo
dgn-np:NP579686.RA9a1B67u9gi6skcjJZnsuL7nGF7EFxgIzXyVnJWID8sY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP579686.RA9a1B67u9gi6skcjJZnsuL7nGF7EFxgIzXyVnJWID8sY130_assertion
a
np:Assertion
.
dgn-np:NP579686.RA9a1B67u9gi6skcjJZnsuL7nGF7EFxgIzXyVnJWID8sY130_provenance
a
np:Provenance
.
dgn-np:NP579686.RA9a1B67u9gi6skcjJZnsuL7nGF7EFxgIzXyVnJWID8sY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP579686.RA9a1B67u9gi6skcjJZnsuL7nGF7EFxgIzXyVnJWID8sY130_assertion
{
miriam-gene:57216
a
ncit:C16612
.
lld:C0741916
a
ncit:C7057
.
dgn-gda:DGN53918c8fd85237174ef5f46aa79e2f02
sio:SIO_000628
miriam-gene:57216
,
lld:C0741916
;
a
sio:SIO_001121
.
}
dgn-np:NP579686.RA9a1B67u9gi6skcjJZnsuL7nGF7EFxgIzXyVnJWID8sY130_provenance
{
dgn-np:NP579686.RA9a1B67u9gi6skcjJZnsuL7nGF7EFxgIzXyVnJWID8sY130_assertion
dcterms:description
"[A 27-month old boy with mild developmental delay, growth delay, strabismus, midface hypoplasia, relative telecanthus, downslanting palpebral fissures, epicanthal folds, dental hypoplasia, and cardiac defects was found to have an interstitial deletion of chromosome 18 involving band q12.1 or q12.3]. 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:1719812
;
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:NP579686.RA9a1B67u9gi6skcjJZnsuL7nGF7EFxgIzXyVnJWID8sY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:49+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" .
}