@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP270050.RAfT8cReP_87jAH43fcHBuGV1X1D3bbEhRfRIjP1lcXlk
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP270050.RAfT8cReP_87jAH43fcHBuGV1X1D3bbEhRfRIjP1lcXlk130_head
{
this:
np:hasAssertion
dgn-np:NP270050.RAfT8cReP_87jAH43fcHBuGV1X1D3bbEhRfRIjP1lcXlk130_assertion
;
np:hasProvenance
dgn-np:NP270050.RAfT8cReP_87jAH43fcHBuGV1X1D3bbEhRfRIjP1lcXlk130_provenance
;
np:hasPublicationInfo
dgn-np:NP270050.RAfT8cReP_87jAH43fcHBuGV1X1D3bbEhRfRIjP1lcXlk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP270050.RAfT8cReP_87jAH43fcHBuGV1X1D3bbEhRfRIjP1lcXlk130_assertion
a
np:Assertion
.
dgn-np:NP270050.RAfT8cReP_87jAH43fcHBuGV1X1D3bbEhRfRIjP1lcXlk130_provenance
a
np:Provenance
.
dgn-np:NP270050.RAfT8cReP_87jAH43fcHBuGV1X1D3bbEhRfRIjP1lcXlk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP270050.RAfT8cReP_87jAH43fcHBuGV1X1D3bbEhRfRIjP1lcXlk130_assertion
{
miriam-gene:6473
a
ncit:C16612
.
lld:C0265309
a
ncit:C7057
.
dgn-gda:DGN0df038e4f6701f20bb05bee0f4d0e89a
sio:SIO_000628
miriam-gene:6473
,
lld:C0265309
;
a
sio:SIO_001121
.
}
dgn-np:NP270050.RAfT8cReP_87jAH43fcHBuGV1X1D3bbEhRfRIjP1lcXlk130_provenance
{
dgn-np:NP270050.RAfT8cReP_87jAH43fcHBuGV1X1D3bbEhRfRIjP1lcXlk130_assertion
dcterms:description
"[These findings suggest that haploinsufficiency of SHOX causes not only short stature but also Turner skeletal anomalies (such as short 4th metacarpals, cubitus valgus, and LWD) and that growth pattern is primarily dependent on the presence or absence of LWD.]. 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:10599728
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP270050.RAfT8cReP_87jAH43fcHBuGV1X1D3bbEhRfRIjP1lcXlk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:48+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}