@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP519359.RANZL_hdJPRl0RLjnje-6Nr0RRc2sanse5OjG8jwMr-tM
> .
@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:NP519359.RANZL_hdJPRl0RLjnje-6Nr0RRc2sanse5OjG8jwMr-tM130_head
{
this:
np:hasAssertion
dgn-np:NP519359.RANZL_hdJPRl0RLjnje-6Nr0RRc2sanse5OjG8jwMr-tM130_assertion
;
np:hasProvenance
dgn-np:NP519359.RANZL_hdJPRl0RLjnje-6Nr0RRc2sanse5OjG8jwMr-tM130_provenance
;
np:hasPublicationInfo
dgn-np:NP519359.RANZL_hdJPRl0RLjnje-6Nr0RRc2sanse5OjG8jwMr-tM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP519359.RANZL_hdJPRl0RLjnje-6Nr0RRc2sanse5OjG8jwMr-tM130_assertion
a
np:Assertion
.
dgn-np:NP519359.RANZL_hdJPRl0RLjnje-6Nr0RRc2sanse5OjG8jwMr-tM130_provenance
a
np:Provenance
.
dgn-np:NP519359.RANZL_hdJPRl0RLjnje-6Nr0RRc2sanse5OjG8jwMr-tM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP519359.RANZL_hdJPRl0RLjnje-6Nr0RRc2sanse5OjG8jwMr-tM130_assertion
{
miriam-gene:537
a
ncit:C16612
.
lld:C0085548
a
ncit:C7057
.
dgn-gda:DGN5d3c2150e06e82c39860e9fb03c2152e
sio:SIO_000628
miriam-gene:537
,
lld:C0085548
;
a
sio:SIO_001121
.
}
dgn-np:NP519359.RANZL_hdJPRl0RLjnje-6Nr0RRc2sanse5OjG8jwMr-tM130_provenance
{
dgn-np:NP519359.RANZL_hdJPRl0RLjnje-6Nr0RRc2sanse5OjG8jwMr-tM130_assertion
dcterms:description
"[Using DHPLC for alternatively spliced exons and quantitative real time polymerase chain reaction to detect genomic imbalances, 58 ARPKD patients were screened, of whom 55 were known to harbour one PKHD1 point mutation in the longest ORF.]. 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:16199545
;
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:NP519359.RANZL_hdJPRl0RLjnje-6Nr0RRc2sanse5OjG8jwMr-tM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:09+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" .
}