@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP224899.RA8njUSl2xbciQHcQ7G6poZscJQkMi7nsqvG8PoHRZR68
> .
@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:NP224899.RA8njUSl2xbciQHcQ7G6poZscJQkMi7nsqvG8PoHRZR68130_head
{
this:
np:hasAssertion
dgn-np:NP224899.RA8njUSl2xbciQHcQ7G6poZscJQkMi7nsqvG8PoHRZR68130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP224899.RA8njUSl2xbciQHcQ7G6poZscJQkMi7nsqvG8PoHRZR68130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP224899.RA8njUSl2xbciQHcQ7G6poZscJQkMi7nsqvG8PoHRZR68130_assertion
a
np:Assertion
.
dgn-np:NP224899.RA8njUSl2xbciQHcQ7G6poZscJQkMi7nsqvG8PoHRZR68130_provenance
a
np:Provenance
.
dgn-np:NP224899.RA8njUSl2xbciQHcQ7G6poZscJQkMi7nsqvG8PoHRZR68130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP224899.RA8njUSl2xbciQHcQ7G6poZscJQkMi7nsqvG8PoHRZR68130_assertion
{
miriam-gene:1294
a
ncit:C16612
.
lld:C0079294
a
ncit:C7057
.
dgn-gda:DGNc2a8c8bd06f620125bd3a46b5acaf1e6
sio:SIO_000628
miriam-gene:1294
,
lld:C0079294
;
a
sio:SIO_001121
.
}
dgn-np:NP224899.RA8njUSl2xbciQHcQ7G6poZscJQkMi7nsqvG8PoHRZR68130_provenance
{
dgn-np:NP224899.RA8njUSl2xbciQHcQ7G6poZscJQkMi7nsqvG8PoHRZR68130_assertion
dcterms:description
"[This is the first demonstration of a COL7A1 mutation in DDEB-P, and brings the total number of dominant DEB variants with underlying glycine substitutions in COL7A1 to five, including the pretibial and localized variants as well as the Bart's syndrome, in addition to DDEB-P and DDEB-CT.]. 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:9347800
;
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:NP224899.RA8njUSl2xbciQHcQ7G6poZscJQkMi7nsqvG8PoHRZR68130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:05+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" .
}