@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP463728.RA8leGot5qW6F4B0YWFPqn4Xf685x3ar-uU5hRZirQiQg
> .
@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:NP463728.RA8leGot5qW6F4B0YWFPqn4Xf685x3ar-uU5hRZirQiQg130_head
{
this:
np:hasAssertion
dgn-np:NP463728.RA8leGot5qW6F4B0YWFPqn4Xf685x3ar-uU5hRZirQiQg130_assertion
;
np:hasProvenance
dgn-np:NP463728.RA8leGot5qW6F4B0YWFPqn4Xf685x3ar-uU5hRZirQiQg130_provenance
;
np:hasPublicationInfo
dgn-np:NP463728.RA8leGot5qW6F4B0YWFPqn4Xf685x3ar-uU5hRZirQiQg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP463728.RA8leGot5qW6F4B0YWFPqn4Xf685x3ar-uU5hRZirQiQg130_assertion
a
np:Assertion
.
dgn-np:NP463728.RA8leGot5qW6F4B0YWFPqn4Xf685x3ar-uU5hRZirQiQg130_provenance
a
np:Provenance
.
dgn-np:NP463728.RA8leGot5qW6F4B0YWFPqn4Xf685x3ar-uU5hRZirQiQg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP463728.RA8leGot5qW6F4B0YWFPqn4Xf685x3ar-uU5hRZirQiQg130_assertion
{
miriam-gene:6473
a
ncit:C16612
.
lld:C0152441
a
ncit:C7057
.
dgn-gda:DGNea02c657d0fdd5282985928439a00e1c
sio:SIO_000628
miriam-gene:6473
,
lld:C0152441
;
a
sio:SIO_001121
.
}
dgn-np:NP463728.RA8leGot5qW6F4B0YWFPqn4Xf685x3ar-uU5hRZirQiQg130_provenance
{
dgn-np:NP463728.RA8leGot5qW6F4B0YWFPqn4Xf685x3ar-uU5hRZirQiQg130_assertion
dcterms:description
"[This case resulted in the description of a novel mutation in exon 5 (M202delA) and suggests the importance of screening for SHOX mutations in patients with idiopathic short stature with subtle radiographic abnormalities, including the components of the Madelung deformity in their bone age films.]. 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:17028440
;
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:NP463728.RA8leGot5qW6F4B0YWFPqn4Xf685x3ar-uU5hRZirQiQg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:36+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" .
}