@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP440136.RAfjSvPdTJyjkr18oMvAb_5zI1Jgcvle7eBL2uCpHvwJg
> .
@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:NP440136.RAfjSvPdTJyjkr18oMvAb_5zI1Jgcvle7eBL2uCpHvwJg130_head
{
this:
np:hasAssertion
dgn-np:NP440136.RAfjSvPdTJyjkr18oMvAb_5zI1Jgcvle7eBL2uCpHvwJg130_assertion
;
np:hasProvenance
dgn-np:NP440136.RAfjSvPdTJyjkr18oMvAb_5zI1Jgcvle7eBL2uCpHvwJg130_provenance
;
np:hasPublicationInfo
dgn-np:NP440136.RAfjSvPdTJyjkr18oMvAb_5zI1Jgcvle7eBL2uCpHvwJg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP440136.RAfjSvPdTJyjkr18oMvAb_5zI1Jgcvle7eBL2uCpHvwJg130_assertion
a
np:Assertion
.
dgn-np:NP440136.RAfjSvPdTJyjkr18oMvAb_5zI1Jgcvle7eBL2uCpHvwJg130_provenance
a
np:Provenance
.
dgn-np:NP440136.RAfjSvPdTJyjkr18oMvAb_5zI1Jgcvle7eBL2uCpHvwJg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP440136.RAfjSvPdTJyjkr18oMvAb_5zI1Jgcvle7eBL2uCpHvwJg130_assertion
{
miriam-gene:1294
a
ncit:C16612
.
lld:C0014527
a
ncit:C7057
.
dgn-gda:DGNa9304372c3abeb4bb08bbbfc5c52c960
sio:SIO_000628
miriam-gene:1294
,
lld:C0014527
;
a
sio:SIO_001121
.
}
dgn-np:NP440136.RAfjSvPdTJyjkr18oMvAb_5zI1Jgcvle7eBL2uCpHvwJg130_provenance
{
dgn-np:NP440136.RAfjSvPdTJyjkr18oMvAb_5zI1Jgcvle7eBL2uCpHvwJg130_assertion
dcterms:description
"[More than 100 sequence variants have been identified thus far in COL7A1 using this method, some of which are single base pair polymorphisms and many of which are pathogenetic mutations contributing to the blistering phenotype in DEB.]. 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:9375858
;
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:NP440136.RAfjSvPdTJyjkr18oMvAb_5zI1Jgcvle7eBL2uCpHvwJg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:20+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" .
}