@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP450325.RAwzB2JVKKzt3sH7W1id-rFbCDNPMAnv9rZ3Dtc8YqWnI
> .
@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:NP450325.RAwzB2JVKKzt3sH7W1id-rFbCDNPMAnv9rZ3Dtc8YqWnI130_head
{
this:
np:hasAssertion
dgn-np:NP450325.RAwzB2JVKKzt3sH7W1id-rFbCDNPMAnv9rZ3Dtc8YqWnI130_assertion
;
np:hasProvenance
dgn-np:NP450325.RAwzB2JVKKzt3sH7W1id-rFbCDNPMAnv9rZ3Dtc8YqWnI130_provenance
;
np:hasPublicationInfo
dgn-np:NP450325.RAwzB2JVKKzt3sH7W1id-rFbCDNPMAnv9rZ3Dtc8YqWnI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP450325.RAwzB2JVKKzt3sH7W1id-rFbCDNPMAnv9rZ3Dtc8YqWnI130_assertion
a
np:Assertion
.
dgn-np:NP450325.RAwzB2JVKKzt3sH7W1id-rFbCDNPMAnv9rZ3Dtc8YqWnI130_provenance
a
np:Provenance
.
dgn-np:NP450325.RAwzB2JVKKzt3sH7W1id-rFbCDNPMAnv9rZ3Dtc8YqWnI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP450325.RAwzB2JVKKzt3sH7W1id-rFbCDNPMAnv9rZ3Dtc8YqWnI130_assertion
{
miriam-gene:7290
a
ncit:C16612
.
lld:C0012236
a
ncit:C7057
.
dgn-gda:DGNdfa0eb80663b65e919e171e9e54eed70
sio:SIO_000628
miriam-gene:7290
,
lld:C0012236
;
a
sio:SIO_001121
.
}
dgn-np:NP450325.RAwzB2JVKKzt3sH7W1id-rFbCDNPMAnv9rZ3Dtc8YqWnI130_provenance
{
dgn-np:NP450325.RAwzB2JVKKzt3sH7W1id-rFbCDNPMAnv9rZ3Dtc8YqWnI130_assertion
dcterms:description
"[The ring chromosome 22 found in the fetus appears to have been derived from a rearrangement of the mother's inverted 22, resulting in ring formation and loss of the end of the distal long arm of the inverted 22, including the TUPLE1 locus, causing DiGeorge syndrome in the fetus.]. 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:17099929
;
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:NP450325.RAwzB2JVKKzt3sH7W1id-rFbCDNPMAnv9rZ3Dtc8YqWnI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:28+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" .
}