@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP419273.RAMeDscD48lNDbsTeXsGTEdwh9LDZZ3n48L5CD80KdF3o
> .
@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#
> .
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{
this:
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;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP419273.RAMeDscD48lNDbsTeXsGTEdwh9LDZZ3n48L5CD80KdF3o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP419273.RAMeDscD48lNDbsTeXsGTEdwh9LDZZ3n48L5CD80KdF3o130_assertion
a
np:Assertion
.
dgn-np:NP419273.RAMeDscD48lNDbsTeXsGTEdwh9LDZZ3n48L5CD80KdF3o130_provenance
a
np:Provenance
.
dgn-np:NP419273.RAMeDscD48lNDbsTeXsGTEdwh9LDZZ3n48L5CD80KdF3o130_publicationInfo
a
np:PublicationInfo
.
}
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{
miriam-gene:1832
a
ncit:C16612
.
lld:C0343073
a
ncit:C7057
.
dgn-gda:DGNdc47ff5a85821d1c95cef97688b76604
sio:SIO_000628
miriam-gene:1832
,
lld:C0343073
;
a
sio:SIO_001121
.
}
dgn-np:NP419273.RAMeDscD48lNDbsTeXsGTEdwh9LDZZ3n48L5CD80KdF3o130_provenance
{
dgn-np:NP419273.RAMeDscD48lNDbsTeXsGTEdwh9LDZZ3n48L5CD80KdF3o130_assertion
dcterms:description
"[Mutations in the plakoglobin and desmoplakin genes have been identified to underlie recessive ARVC associated with woolly hair and palmoplantar keratoderma (Naxos disease), while mutations in plakophilin2, desmoglein2 as well as desmoplakin have been identified to underlie the dominant non-syndromic form.]. 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:16698823
;
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:NP419273.RAMeDscD48lNDbsTeXsGTEdwh9LDZZ3n48L5CD80KdF3o130_publicationInfo
{
this:
dcterms:created
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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
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dgn-void:disgenetrdf
pav:version
"v2.1.0" .
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