@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP835683.RAq5MD2F3Eh48OIZEAurbP9HaHAthwDZgWU7eYoOLK5fI
> .
@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:NP835683.RAq5MD2F3Eh48OIZEAurbP9HaHAthwDZgWU7eYoOLK5fI130_head
{
this:
np:hasAssertion
dgn-np:NP835683.RAq5MD2F3Eh48OIZEAurbP9HaHAthwDZgWU7eYoOLK5fI130_assertion
;
np:hasProvenance
dgn-np:NP835683.RAq5MD2F3Eh48OIZEAurbP9HaHAthwDZgWU7eYoOLK5fI130_provenance
;
np:hasPublicationInfo
dgn-np:NP835683.RAq5MD2F3Eh48OIZEAurbP9HaHAthwDZgWU7eYoOLK5fI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP835683.RAq5MD2F3Eh48OIZEAurbP9HaHAthwDZgWU7eYoOLK5fI130_assertion
a
np:Assertion
.
dgn-np:NP835683.RAq5MD2F3Eh48OIZEAurbP9HaHAthwDZgWU7eYoOLK5fI130_provenance
a
np:Provenance
.
dgn-np:NP835683.RAq5MD2F3Eh48OIZEAurbP9HaHAthwDZgWU7eYoOLK5fI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP835683.RAq5MD2F3Eh48OIZEAurbP9HaHAthwDZgWU7eYoOLK5fI130_assertion
{
miriam-gene:1300
a
ncit:C16612
.
lld:C2748503
a
ncit:C7057
.
dgn-gda:DGN900fc1d97842455811c1a79be3a59ede
sio:SIO_000628
miriam-gene:1300
,
lld:C2748503
;
a
sio:SIO_001121
.
}
dgn-np:NP835683.RAq5MD2F3Eh48OIZEAurbP9HaHAthwDZgWU7eYoOLK5fI130_provenance
{
dgn-np:NP835683.RAq5MD2F3Eh48OIZEAurbP9HaHAthwDZgWU7eYoOLK5fI130_assertion
dcterms:description
"[We have used the polymerase chain reaction and single strand conformation polymorphism (SSCP) methods to analyse the COL10A1 gene, which encodes collagen type X, in DNA samples from patients with metaphyseal dysplasia type Schmid (SMCD) and other related forms of metaphyseal dysplasia.]. 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:7607655
;
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:NP835683.RAq5MD2F3Eh48OIZEAurbP9HaHAthwDZgWU7eYoOLK5fI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:31+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" .
}