@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY
> .
@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:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_head
{
this:
np:hasAssertion
dgn-np:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_assertion
;
np:hasProvenance
dgn-np:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_provenance
;
np:hasPublicationInfo
dgn-np:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_assertion
a
np:Assertion
.
dgn-np:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_provenance
a
np:Provenance
.
dgn-np:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_assertion
{
miriam-gene:3949
a
ncit:C16612
.
lld:C0020445
a
ncit:C7057
.
dgn-gda:DGNb7a917901511125399b095989f38248d
sio:SIO_000628
miriam-gene:3949
,
lld:C0020445
;
a
sio:SIO_001122
.
}
dgn-np:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_provenance
{
dgn-np:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_assertion
dcterms:description
"[PCR-based methods for detection of two point mutations (V408M and P664L) at the LDL receptor (LDLR) locus, cosegregation analysis using eight restriction fragment length polymorphisms (RFLPs) at the LDLR locus, or the exclusion of FDB confirmed the clinical diagnosis of FH.]. 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:7583549
;
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:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:41+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" .
}