@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY
> .
@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:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_head
{
this:
np:hasAssertion
dgn-np:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_assertion
;
np:hasProvenance
dgn-np:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_provenance
;
np:hasPublicationInfo
dgn-np:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_assertion
a
np:Assertion
.
dgn-np:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_provenance
a
np:Provenance
.
dgn-np:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_assertion
{
miriam-gene:3861
a
ncit:C16612
.
lld:C0014527
a
ncit:C7057
.
dgn-gda:DGNf2dd8d12c1e96a40924dfddfb99b37f9
sio:SIO_000628
miriam-gene:3861
,
lld:C0014527
;
a
sio:SIO_001121
.
}
dgn-np:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_provenance
{
dgn-np:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_assertion
dcterms:description
"[The recessive simplex types include EB with muscular dystrophy due to abnormal plectin, EB without muscular dystrophy in patients homozygous for K14 gene abnormalities, and skin fragility syndrome, with formation of acantholytic vesicles within the epidermis due to PKP1 gene mutations.]. 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:12677430
;
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:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:14+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" .
}