@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP269814.RAiJ5PsZLOy3ijWU2Uw-pi6KWGxKIOq3Fh7oUZ8808zKY
> .
@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:NP269814.RAiJ5PsZLOy3ijWU2Uw-pi6KWGxKIOq3Fh7oUZ8808zKY130_head
{
this:
np:hasAssertion
dgn-np:NP269814.RAiJ5PsZLOy3ijWU2Uw-pi6KWGxKIOq3Fh7oUZ8808zKY130_assertion
;
np:hasProvenance
dgn-np:NP269814.RAiJ5PsZLOy3ijWU2Uw-pi6KWGxKIOq3Fh7oUZ8808zKY130_provenance
;
np:hasPublicationInfo
dgn-np:NP269814.RAiJ5PsZLOy3ijWU2Uw-pi6KWGxKIOq3Fh7oUZ8808zKY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP269814.RAiJ5PsZLOy3ijWU2Uw-pi6KWGxKIOq3Fh7oUZ8808zKY130_assertion
a
np:Assertion
.
dgn-np:NP269814.RAiJ5PsZLOy3ijWU2Uw-pi6KWGxKIOq3Fh7oUZ8808zKY130_provenance
a
np:Provenance
.
dgn-np:NP269814.RAiJ5PsZLOy3ijWU2Uw-pi6KWGxKIOq3Fh7oUZ8808zKY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP269814.RAiJ5PsZLOy3ijWU2Uw-pi6KWGxKIOq3Fh7oUZ8808zKY130_assertion
{
miriam-gene:6473
a
ncit:C16612
.
lld:C0265309
a
ncit:C7057
.
dgn-gda:DGNfe2ce23891b56a943f8794b56998daa2
sio:SIO_000628
miriam-gene:6473
,
lld:C0265309
;
a
sio:SIO_001121
.
}
dgn-np:NP269814.RAiJ5PsZLOy3ijWU2Uw-pi6KWGxKIOq3Fh7oUZ8808zKY130_provenance
{
dgn-np:NP269814.RAiJ5PsZLOy3ijWU2Uw-pi6KWGxKIOq3Fh7oUZ8808zKY130_assertion
dcterms:description
"[MLPA analysis of SHOX/PAR1 led to the identification of partial and complete SHOX duplications or multiple copies associated with LWD or ISS, suggesting that they may represent an additional class of mutations implicated in the molecular etiology of these clinical entities.]. 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:21147883
;
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:NP269814.RAiJ5PsZLOy3ijWU2Uw-pi6KWGxKIOq3Fh7oUZ8808zKY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:30+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" .
}