@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ
> .
@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:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_head
{
this:
np:hasAssertion
dgn-np:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_assertion
;
np:hasProvenance
dgn-np:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_assertion
a
np:Assertion
.
dgn-np:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_provenance
a
np:Provenance
.
dgn-np:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_assertion
{
miriam-gene:338
a
ncit:C16612
.
lld:C0020445
a
ncit:C7057
.
dgn-gda:DGN93f035f3f984edc364990dbd22fc7a9f
sio:SIO_000628
miriam-gene:338
,
lld:C0020445
;
a
sio:SIO_001122
.
}
dgn-np:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_provenance
{
dgn-np:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_assertion
dcterms:description
"[The FH chip contains the APOB mutation p.Arg3527Gln, all 89 LDLR point mutations and small DNA rearrangements detected in Czech FH patients, and 78 mutations frequent in other European and Asian FH populations.]. 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:21310417
;
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:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:19+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" .
}