@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM
> .
@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:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_head
{
this:
np:hasAssertion
dgn-np:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_assertion
;
np:hasProvenance
dgn-np:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_provenance
;
np:hasPublicationInfo
dgn-np:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_assertion
a
np:Assertion
.
dgn-np:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_provenance
a
np:Provenance
.
dgn-np:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_assertion
{
miriam-gene:3949
a
ncit:C16612
.
lld:C0020445
a
ncit:C7057
.
dgn-gda:DGNcb181a8546cae4ed219e25ad128788bb
sio:SIO_000628
miriam-gene:3949
,
lld:C0020445
;
a
sio:SIO_001122
.
}
dgn-np:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_provenance
{
dgn-np:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_assertion
dcterms:description
"[Sixteen of 17 apparently unrelated individuals heterozygous for FH E80K also were heterozygous for an identical size (239 nucleotide) allele, of polymorphic microsatellite D19S394, located approximately 250 kb away from the LDLR gene.]. 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:9547893
;
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:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:17+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" .
}