@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU
> .
@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:NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_head
{
this:
np:hasAssertion
dgn-np:NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_assertion
;
np:hasProvenance
dgn-np:NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_provenance
;
np:hasPublicationInfo
dgn-np:NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_assertion
a
np:Assertion
.
dgn-np:NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_provenance
a
np:Provenance
.
dgn-np:NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_assertion
{
miriam-gene:2261
a
ncit:C16612
.
lld:C0410529
a
ncit:C7057
.
dgn-gda:DGNe7b764b65094f9ad68f9e0a07d60ebff
sio:SIO_000628
miriam-gene:2261
,
lld:C0410529
;
a
sio:SIO_001122
.
}
dgn-np:NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_provenance
{
dgn-np:NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_assertion
dcterms:description
"[To determine whether the genotype could be distinguished on the basis of the phenotype, we analysed height, arm span, and skeletal radiographs from 23 patients with achondroplasia and the G380R mutation of FGFR3 and eight with hypochondroplasia and the N540K mutation.]. 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:9853502
;
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:NP1410988.RANyZunK2GJKYxpDrLlsNVKhP2W1xuvlSqoFQS_AgIRmU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:26+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" .
}