@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE
> .
@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:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_head
{
this:
np:hasAssertion
dgn-np:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_assertion
;
np:hasProvenance
dgn-np:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_provenance
;
np:hasPublicationInfo
dgn-np:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_assertion
a
np:Assertion
.
dgn-np:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_provenance
a
np:Provenance
.
dgn-np:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_assertion
{
miriam-gene:2261
a
ncit:C16612
.
lld:C0410529
a
ncit:C7057
.
dgn-gda:DGNbba8d06e93ee5de5c081a7c319f8f4a8
sio:SIO_000628
miriam-gene:2261
,
lld:C0410529
;
a
sio:SIO_001121
.
}
dgn-np:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_provenance
{
dgn-np:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_assertion
dcterms:description
"[The aims of the study were to identify the frequency of the FGFR3 gene mutation, to define the salient clinical and radiological abnormalities of the affected subjects, and to verify the contribution of molecular findings to the clinical and radiological definition of hypochondroplasia.]. 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:9450868
;
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:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:15+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" .
}