@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP787265.RAyiOoTSxF9ar4Urhiisz0Dw367fDHdKnUFumWWTuTnHI
> .
@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:NP787265.RAyiOoTSxF9ar4Urhiisz0Dw367fDHdKnUFumWWTuTnHI130_head
{
this:
np:hasAssertion
dgn-np:NP787265.RAyiOoTSxF9ar4Urhiisz0Dw367fDHdKnUFumWWTuTnHI130_assertion
;
np:hasProvenance
dgn-np:NP787265.RAyiOoTSxF9ar4Urhiisz0Dw367fDHdKnUFumWWTuTnHI130_provenance
;
np:hasPublicationInfo
dgn-np:NP787265.RAyiOoTSxF9ar4Urhiisz0Dw367fDHdKnUFumWWTuTnHI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP787265.RAyiOoTSxF9ar4Urhiisz0Dw367fDHdKnUFumWWTuTnHI130_assertion
a
np:Assertion
.
dgn-np:NP787265.RAyiOoTSxF9ar4Urhiisz0Dw367fDHdKnUFumWWTuTnHI130_provenance
a
np:Provenance
.
dgn-np:NP787265.RAyiOoTSxF9ar4Urhiisz0Dw367fDHdKnUFumWWTuTnHI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP787265.RAyiOoTSxF9ar4Urhiisz0Dw367fDHdKnUFumWWTuTnHI130_assertion
{
miriam-gene:7301
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGN9b43459c91ab4423ce856c940bce2cfa
sio:SIO_000628
miriam-gene:7301
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP787265.RAyiOoTSxF9ar4Urhiisz0Dw367fDHdKnUFumWWTuTnHI130_provenance
{
dgn-np:NP787265.RAyiOoTSxF9ar4Urhiisz0Dw367fDHdKnUFumWWTuTnHI130_assertion
dcterms:description
"[Clinical experience with balanced reciprocal translocations: In order to evaluate past experience with respect to the occurrence of balanced reciprocal translocations (BRT) in patients with malformation syndromes and/or mental retardation (MS/MR) and in couples with reproductive failure, 4,335 karyotypes from the Genetics Unit of the Universidad del Zulia from January 1971 to December 1994 were reviewed, resulting in the identification of 15 cases of BRT (0.34%).]. 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:8775422
;
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:NP787265.RAyiOoTSxF9ar4Urhiisz0Dw367fDHdKnUFumWWTuTnHI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:00+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" .
}