@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP700862.RAHxdLgoFKcjFtFf3_HwnfmGmTTbLGAs08S65SuGMdrzo
> .
@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:NP700862.RAHxdLgoFKcjFtFf3_HwnfmGmTTbLGAs08S65SuGMdrzo130_head
{
this:
np:hasAssertion
dgn-np:NP700862.RAHxdLgoFKcjFtFf3_HwnfmGmTTbLGAs08S65SuGMdrzo130_assertion
;
np:hasProvenance
dgn-np:NP700862.RAHxdLgoFKcjFtFf3_HwnfmGmTTbLGAs08S65SuGMdrzo130_provenance
;
np:hasPublicationInfo
dgn-np:NP700862.RAHxdLgoFKcjFtFf3_HwnfmGmTTbLGAs08S65SuGMdrzo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP700862.RAHxdLgoFKcjFtFf3_HwnfmGmTTbLGAs08S65SuGMdrzo130_assertion
a
np:Assertion
.
dgn-np:NP700862.RAHxdLgoFKcjFtFf3_HwnfmGmTTbLGAs08S65SuGMdrzo130_provenance
a
np:Provenance
.
dgn-np:NP700862.RAHxdLgoFKcjFtFf3_HwnfmGmTTbLGAs08S65SuGMdrzo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP700862.RAHxdLgoFKcjFtFf3_HwnfmGmTTbLGAs08S65SuGMdrzo130_assertion
{
miriam-gene:1029
a
ncit:C16612
.
lld:C0013080
a
ncit:C7057
.
dgn-gda:DGN371b950fe05c0e331b1748699f115835
sio:SIO_000628
miriam-gene:1029
,
lld:C0013080
;
a
sio:SIO_001121
.
}
dgn-np:NP700862.RAHxdLgoFKcjFtFf3_HwnfmGmTTbLGAs08S65SuGMdrzo130_provenance
{
dgn-np:NP700862.RAHxdLgoFKcjFtFf3_HwnfmGmTTbLGAs08S65SuGMdrzo130_assertion
dcterms:description
"[The karyotype was abnormal in nine cases, including seven cases of aneuploidy (one Turner syndrome, three trisomy 18, and three trisomy 21) and two cases of structural chromosomal abnormalities (46,XX, del 4 p16.1 and 46,XX, dup1).]. 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:14691994
;
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:NP700862.RAHxdLgoFKcjFtFf3_HwnfmGmTTbLGAs08S65SuGMdrzo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:06+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" .
}