@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP405228.RA9YHDpGASRrNQTd1bC2PwteXk2h7a7rABTI1np4FYg4o
> .
@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:NP405228.RA9YHDpGASRrNQTd1bC2PwteXk2h7a7rABTI1np4FYg4o130_head
{
this:
np:hasAssertion
dgn-np:NP405228.RA9YHDpGASRrNQTd1bC2PwteXk2h7a7rABTI1np4FYg4o130_assertion
;
np:hasProvenance
dgn-np:NP405228.RA9YHDpGASRrNQTd1bC2PwteXk2h7a7rABTI1np4FYg4o130_provenance
;
np:hasPublicationInfo
dgn-np:NP405228.RA9YHDpGASRrNQTd1bC2PwteXk2h7a7rABTI1np4FYg4o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP405228.RA9YHDpGASRrNQTd1bC2PwteXk2h7a7rABTI1np4FYg4o130_assertion
a
np:Assertion
.
dgn-np:NP405228.RA9YHDpGASRrNQTd1bC2PwteXk2h7a7rABTI1np4FYg4o130_provenance
a
np:Provenance
.
dgn-np:NP405228.RA9YHDpGASRrNQTd1bC2PwteXk2h7a7rABTI1np4FYg4o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP405228.RA9YHDpGASRrNQTd1bC2PwteXk2h7a7rABTI1np4FYg4o130_assertion
{
miriam-gene:3949
a
ncit:C16612
.
lld:C0007194
a
ncit:C7057
.
dgn-gda:DGN7e807766468338d18745be177d81b891
sio:SIO_000628
miriam-gene:3949
,
lld:C0007194
;
a
sio:SIO_001121
.
}
dgn-np:NP405228.RA9YHDpGASRrNQTd1bC2PwteXk2h7a7rABTI1np4FYg4o130_provenance
{
dgn-np:NP405228.RA9YHDpGASRrNQTd1bC2PwteXk2h7a7rABTI1np4FYg4o130_assertion
dcterms:description
"[Genetic testing and screening in children or adolescents for conditions such as hypertrophic cardiomyopathy (HCM), familial hypercholesterolemia (FH), and long QT (LQT) syndrome, when indicated, can help to save lives through preventive treatment and therapeutic interventions.]. 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:10386275
;
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:NP405228.RA9YHDpGASRrNQTd1bC2PwteXk2h7a7rABTI1np4FYg4o130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:01+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" .
}