@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP521630.RAjvk4zXq4Uoi3WVgMstRJKCOZgOdjbXR_JJ16mEYCg-c
> .
@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:NP521630.RAjvk4zXq4Uoi3WVgMstRJKCOZgOdjbXR_JJ16mEYCg-c130_head
{
this:
np:hasAssertion
dgn-np:NP521630.RAjvk4zXq4Uoi3WVgMstRJKCOZgOdjbXR_JJ16mEYCg-c130_assertion
;
np:hasProvenance
dgn-np:NP521630.RAjvk4zXq4Uoi3WVgMstRJKCOZgOdjbXR_JJ16mEYCg-c130_provenance
;
np:hasPublicationInfo
dgn-np:NP521630.RAjvk4zXq4Uoi3WVgMstRJKCOZgOdjbXR_JJ16mEYCg-c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP521630.RAjvk4zXq4Uoi3WVgMstRJKCOZgOdjbXR_JJ16mEYCg-c130_assertion
a
np:Assertion
.
dgn-np:NP521630.RAjvk4zXq4Uoi3WVgMstRJKCOZgOdjbXR_JJ16mEYCg-c130_provenance
a
np:Provenance
.
dgn-np:NP521630.RAjvk4zXq4Uoi3WVgMstRJKCOZgOdjbXR_JJ16mEYCg-c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP521630.RAjvk4zXq4Uoi3WVgMstRJKCOZgOdjbXR_JJ16mEYCg-c130_assertion
{
miriam-gene:55349
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGN5e1df2fcd384ed56a17997091e0b5a78
sio:SIO_000628
miriam-gene:55349
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP521630.RAjvk4zXq4Uoi3WVgMstRJKCOZgOdjbXR_JJ16mEYCg-c130_provenance
{
dgn-np:NP521630.RAjvk4zXq4Uoi3WVgMstRJKCOZgOdjbXR_JJ16mEYCg-c130_assertion
dcterms:description
"[Report on a 2-year-old, severely retarded girl with partial monosomy of 7q who exhibited not only features possibly due to the chromosomal aberration such as intrauterine dystrophy, microcephaly, odd facies, cleft palate, CHD, but also typical splithand/splitfoot malformation.]. 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:6609672
;
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:NP521630.RAjvk4zXq4Uoi3WVgMstRJKCOZgOdjbXR_JJ16mEYCg-c130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:10+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" .
}