@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP541607.RAdWFURQWgpHtgEyFgd1P9Nq0iyHOkKc_5XCxuhpUiXpA
> .
@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:NP541607.RAdWFURQWgpHtgEyFgd1P9Nq0iyHOkKc_5XCxuhpUiXpA130_head
{
this:
np:hasAssertion
dgn-np:NP541607.RAdWFURQWgpHtgEyFgd1P9Nq0iyHOkKc_5XCxuhpUiXpA130_assertion
;
np:hasProvenance
dgn-np:NP541607.RAdWFURQWgpHtgEyFgd1P9Nq0iyHOkKc_5XCxuhpUiXpA130_provenance
;
np:hasPublicationInfo
dgn-np:NP541607.RAdWFURQWgpHtgEyFgd1P9Nq0iyHOkKc_5XCxuhpUiXpA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP541607.RAdWFURQWgpHtgEyFgd1P9Nq0iyHOkKc_5XCxuhpUiXpA130_assertion
a
np:Assertion
.
dgn-np:NP541607.RAdWFURQWgpHtgEyFgd1P9Nq0iyHOkKc_5XCxuhpUiXpA130_provenance
a
np:Provenance
.
dgn-np:NP541607.RAdWFURQWgpHtgEyFgd1P9Nq0iyHOkKc_5XCxuhpUiXpA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP541607.RAdWFURQWgpHtgEyFgd1P9Nq0iyHOkKc_5XCxuhpUiXpA130_assertion
{
miriam-gene:2625
a
ncit:C16612
.
lld:C0795836
a
ncit:C7057
.
dgn-gda:DGNd2fe04190ac409fd1174e6244f03c2ab
sio:SIO_000628
miriam-gene:2625
,
lld:C0795836
;
a
sio:SIO_001121
.
}
dgn-np:NP541607.RAdWFURQWgpHtgEyFgd1P9Nq0iyHOkKc_5XCxuhpUiXpA130_provenance
{
dgn-np:NP541607.RAdWFURQWgpHtgEyFgd1P9Nq0iyHOkKc_5XCxuhpUiXpA130_assertion
dcterms:description
"[In addition to the two patients in this report, at least four published cases with partial monosomy 10p show the triad of HDR and 14 other patients present with at least two of the three features.]. 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:10633131
;
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:NP541607.RAdWFURQWgpHtgEyFgd1P9Nq0iyHOkKc_5XCxuhpUiXpA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:27+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" .
}