@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP716266.RAhB3j5j3ypbnHj797JIQ6saqq7viDJtPsMV7MQIv7Lo0
> .
@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:NP716266.RAhB3j5j3ypbnHj797JIQ6saqq7viDJtPsMV7MQIv7Lo0130_head
{
this:
np:hasAssertion
dgn-np:NP716266.RAhB3j5j3ypbnHj797JIQ6saqq7viDJtPsMV7MQIv7Lo0130_assertion
;
np:hasProvenance
dgn-np:NP716266.RAhB3j5j3ypbnHj797JIQ6saqq7viDJtPsMV7MQIv7Lo0130_provenance
;
np:hasPublicationInfo
dgn-np:NP716266.RAhB3j5j3ypbnHj797JIQ6saqq7viDJtPsMV7MQIv7Lo0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP716266.RAhB3j5j3ypbnHj797JIQ6saqq7viDJtPsMV7MQIv7Lo0130_assertion
a
np:Assertion
.
dgn-np:NP716266.RAhB3j5j3ypbnHj797JIQ6saqq7viDJtPsMV7MQIv7Lo0130_provenance
a
np:Provenance
.
dgn-np:NP716266.RAhB3j5j3ypbnHj797JIQ6saqq7viDJtPsMV7MQIv7Lo0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP716266.RAhB3j5j3ypbnHj797JIQ6saqq7viDJtPsMV7MQIv7Lo0130_assertion
{
miriam-gene:10850
a
ncit:C16612
.
lld:C0238052
a
ncit:C7057
.
dgn-gda:DGNcd84d5a18ace6f934a793378398cd51f
sio:SIO_000628
miriam-gene:10850
,
lld:C0238052
;
a
sio:SIO_001121
.
}
dgn-np:NP716266.RAhB3j5j3ypbnHj797JIQ6saqq7viDJtPsMV7MQIv7Lo0130_provenance
{
dgn-np:NP716266.RAhB3j5j3ypbnHj797JIQ6saqq7viDJtPsMV7MQIv7Lo0130_assertion
dcterms:description
"[Another notable difference was that the propositus' son (24 years old), who carried the 78dup27 mutation, had no clinical symptoms or bone abnormalities, except for increased serum ALP, OC and CTX.]. 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:19578385
;
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:NP716266.RAhB3j5j3ypbnHj797JIQ6saqq7viDJtPsMV7MQIv7Lo0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:15+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: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" .
}