@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP377431.RAbt_HIW33bSYCRJeP8tC5JPwz0froJ0dORIje0w3YKlg
> .
@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:NP377431.RAbt_HIW33bSYCRJeP8tC5JPwz0froJ0dORIje0w3YKlg130_head
{
this:
np:hasAssertion
dgn-np:NP377431.RAbt_HIW33bSYCRJeP8tC5JPwz0froJ0dORIje0w3YKlg130_assertion
;
np:hasProvenance
dgn-np:NP377431.RAbt_HIW33bSYCRJeP8tC5JPwz0froJ0dORIje0w3YKlg130_provenance
;
np:hasPublicationInfo
dgn-np:NP377431.RAbt_HIW33bSYCRJeP8tC5JPwz0froJ0dORIje0w3YKlg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP377431.RAbt_HIW33bSYCRJeP8tC5JPwz0froJ0dORIje0w3YKlg130_assertion
a
np:Assertion
.
dgn-np:NP377431.RAbt_HIW33bSYCRJeP8tC5JPwz0froJ0dORIje0w3YKlg130_provenance
a
np:Provenance
.
dgn-np:NP377431.RAbt_HIW33bSYCRJeP8tC5JPwz0froJ0dORIje0w3YKlg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP377431.RAbt_HIW33bSYCRJeP8tC5JPwz0froJ0dORIje0w3YKlg130_assertion
{
miriam-gene:6283
a
ncit:C16612
.
lld:C0033847
a
ncit:C7057
.
dgn-gda:DGNd2d1130a14a370758c692091a6e00b42
sio:SIO_000628
miriam-gene:6283
,
lld:C0033847
;
a
sio:SIO_001121
.
}
dgn-np:NP377431.RAbt_HIW33bSYCRJeP8tC5JPwz0froJ0dORIje0w3YKlg130_provenance
{
dgn-np:NP377431.RAbt_HIW33bSYCRJeP8tC5JPwz0froJ0dORIje0w3YKlg130_assertion
dcterms:description
"[Here we describe homozygosity mapping in five PXE families and the detection of deletions or mutations in ABCC6 (formerly MRP6) associated with all genetic forms of PXE in seven patients or families.]. 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:10835643
;
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:NP377431.RAbt_HIW33bSYCRJeP8tC5JPwz0froJ0dORIje0w3YKlg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:41+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: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" .
}