@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP411307.RAwq3OnqE8vRidFf7z_V8gvaUamZONB--OFjXVHB4qmsI
> .
@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:NP411307.RAwq3OnqE8vRidFf7z_V8gvaUamZONB--OFjXVHB4qmsI130_head
{
this:
np:hasAssertion
dgn-np:NP411307.RAwq3OnqE8vRidFf7z_V8gvaUamZONB--OFjXVHB4qmsI130_assertion
;
np:hasProvenance
dgn-np:NP411307.RAwq3OnqE8vRidFf7z_V8gvaUamZONB--OFjXVHB4qmsI130_provenance
;
np:hasPublicationInfo
dgn-np:NP411307.RAwq3OnqE8vRidFf7z_V8gvaUamZONB--OFjXVHB4qmsI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP411307.RAwq3OnqE8vRidFf7z_V8gvaUamZONB--OFjXVHB4qmsI130_assertion
a
np:Assertion
.
dgn-np:NP411307.RAwq3OnqE8vRidFf7z_V8gvaUamZONB--OFjXVHB4qmsI130_provenance
a
np:Provenance
.
dgn-np:NP411307.RAwq3OnqE8vRidFf7z_V8gvaUamZONB--OFjXVHB4qmsI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP411307.RAwq3OnqE8vRidFf7z_V8gvaUamZONB--OFjXVHB4qmsI130_assertion
{
miriam-gene:3949
a
ncit:C16612
.
lld:C0020445
a
ncit:C7057
.
dgn-gda:DGNba8475f8f383eb000da61a6e03a15cc2
sio:SIO_000628
miriam-gene:3949
,
lld:C0020445
;
a
sio:SIO_001121
.
}
dgn-np:NP411307.RAwq3OnqE8vRidFf7z_V8gvaUamZONB--OFjXVHB4qmsI130_provenance
{
dgn-np:NP411307.RAwq3OnqE8vRidFf7z_V8gvaUamZONB--OFjXVHB4qmsI130_assertion
dcterms:description
"[Since the cloning of the human LDL receptor (LDLR) gene, familial hypercholesterolemia (FH) can be diagnosed by recombinant DNA technology either using restriction enzyme mapping to detect major rearrangements of the gene or using restriction fragment length polymorphisms (RFLPs) and linkage analysis in family studies.]. 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:1354952
;
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:NP411307.RAwq3OnqE8vRidFf7z_V8gvaUamZONB--OFjXVHB4qmsI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:51+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" .
}