@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP344968.RAF-ndm99dPD52uk9MGiQvTaam_pBM-iVHaZ505xXfWOw
> .
@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:NP344968.RAF-ndm99dPD52uk9MGiQvTaam_pBM-iVHaZ505xXfWOw130_head
{
this:
np:hasAssertion
dgn-np:NP344968.RAF-ndm99dPD52uk9MGiQvTaam_pBM-iVHaZ505xXfWOw130_assertion
;
np:hasProvenance
dgn-np:NP344968.RAF-ndm99dPD52uk9MGiQvTaam_pBM-iVHaZ505xXfWOw130_provenance
;
np:hasPublicationInfo
dgn-np:NP344968.RAF-ndm99dPD52uk9MGiQvTaam_pBM-iVHaZ505xXfWOw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP344968.RAF-ndm99dPD52uk9MGiQvTaam_pBM-iVHaZ505xXfWOw130_assertion
a
np:Assertion
.
dgn-np:NP344968.RAF-ndm99dPD52uk9MGiQvTaam_pBM-iVHaZ505xXfWOw130_provenance
a
np:Provenance
.
dgn-np:NP344968.RAF-ndm99dPD52uk9MGiQvTaam_pBM-iVHaZ505xXfWOw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP344968.RAF-ndm99dPD52uk9MGiQvTaam_pBM-iVHaZ505xXfWOw130_assertion
{
miriam-gene:1832
a
ncit:C16612
.
lld:C0022596
a
ncit:C7057
.
dgn-gda:DGNc455c0d9867fe48c31532b48cfa08fa4
sio:SIO_000628
miriam-gene:1832
,
lld:C0022596
;
a
sio:SIO_001121
.
}
dgn-np:NP344968.RAF-ndm99dPD52uk9MGiQvTaam_pBM-iVHaZ505xXfWOw130_provenance
{
dgn-np:NP344968.RAF-ndm99dPD52uk9MGiQvTaam_pBM-iVHaZ505xXfWOw130_assertion
dcterms:description
"[Recently, mutations in desmoplakin have been shown to underlie some cases of the autosomal dominant disorder, striate palmoplantar keratoderma, as well as an autosomal recessive condition characterized by dilated cardiomyopathy, woolly hair, and keratoderma.]. 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:11841538
;
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:NP344968.RAF-ndm99dPD52uk9MGiQvTaam_pBM-iVHaZ505xXfWOw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:21+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" .
}