@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP787285.RAvt_0HjjUukyMiVqtyIXBYJhP23DHKzo-wEry4csXgXw
> .
@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:NP787285.RAvt_0HjjUukyMiVqtyIXBYJhP23DHKzo-wEry4csXgXw130_head
{
this:
np:hasAssertion
dgn-np:NP787285.RAvt_0HjjUukyMiVqtyIXBYJhP23DHKzo-wEry4csXgXw130_assertion
;
np:hasProvenance
dgn-np:NP787285.RAvt_0HjjUukyMiVqtyIXBYJhP23DHKzo-wEry4csXgXw130_provenance
;
np:hasPublicationInfo
dgn-np:NP787285.RAvt_0HjjUukyMiVqtyIXBYJhP23DHKzo-wEry4csXgXw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP787285.RAvt_0HjjUukyMiVqtyIXBYJhP23DHKzo-wEry4csXgXw130_assertion
a
np:Assertion
.
dgn-np:NP787285.RAvt_0HjjUukyMiVqtyIXBYJhP23DHKzo-wEry4csXgXw130_provenance
a
np:Provenance
.
dgn-np:NP787285.RAvt_0HjjUukyMiVqtyIXBYJhP23DHKzo-wEry4csXgXw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP787285.RAvt_0HjjUukyMiVqtyIXBYJhP23DHKzo-wEry4csXgXw130_assertion
{
miriam-gene:6473
a
ncit:C16612
.
lld:C0410536
a
ncit:C7057
.
dgn-gda:DGNbd979f0aee091c3b4f95d0b05c6e7eea
sio:SIO_000628
miriam-gene:6473
,
lld:C0410536
;
a
sio:SIO_001121
.
}
dgn-np:NP787285.RAvt_0HjjUukyMiVqtyIXBYJhP23DHKzo-wEry4csXgXw130_provenance
{
dgn-np:NP787285.RAvt_0HjjUukyMiVqtyIXBYJhP23DHKzo-wEry4csXgXw130_assertion
dcterms:description
"[SHOX haplo-insufficiency is considered the molecular basis of short stature in patients with Turner's syndrome, and gives rise to the short stature with mesomelic dysplasia and Madelung deformity of patients with Leri-Weill syndrome.]. 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:11874178
;
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:NP787285.RAvt_0HjjUukyMiVqtyIXBYJhP23DHKzo-wEry4csXgXw130_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" .
}