@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP389863.RAUlWAqZfDaeUCmFT_N9RwwK9dxz3du0P3zYk1kf26LsE
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP389863.RAUlWAqZfDaeUCmFT_N9RwwK9dxz3du0P3zYk1kf26LsE130_head
{
this:
np:hasAssertion
dgn-np:NP389863.RAUlWAqZfDaeUCmFT_N9RwwK9dxz3du0P3zYk1kf26LsE130_assertion
;
np:hasProvenance
dgn-np:NP389863.RAUlWAqZfDaeUCmFT_N9RwwK9dxz3du0P3zYk1kf26LsE130_provenance
;
np:hasPublicationInfo
dgn-np:NP389863.RAUlWAqZfDaeUCmFT_N9RwwK9dxz3du0P3zYk1kf26LsE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP389863.RAUlWAqZfDaeUCmFT_N9RwwK9dxz3du0P3zYk1kf26LsE130_assertion
a
np:Assertion
.
dgn-np:NP389863.RAUlWAqZfDaeUCmFT_N9RwwK9dxz3du0P3zYk1kf26LsE130_provenance
a
np:Provenance
.
dgn-np:NP389863.RAUlWAqZfDaeUCmFT_N9RwwK9dxz3du0P3zYk1kf26LsE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP389863.RAUlWAqZfDaeUCmFT_N9RwwK9dxz3du0P3zYk1kf26LsE130_assertion
{
miriam-gene:5339
a
ncit:C16612
.
lld:C0014527
a
ncit:C7057
.
dgn-gda:DGN3d03ea8192ddfac9e188b13bb0aca933
sio:SIO_000628
miriam-gene:5339
,
lld:C0014527
;
a
sio:SIO_001121
.
}
dgn-np:NP389863.RAUlWAqZfDaeUCmFT_N9RwwK9dxz3du0P3zYk1kf26LsE130_provenance
{
dgn-np:NP389863.RAUlWAqZfDaeUCmFT_N9RwwK9dxz3du0P3zYk1kf26LsE130_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-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP389863.RAUlWAqZfDaeUCmFT_N9RwwK9dxz3du0P3zYk1kf26LsE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:42+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}