@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP629872.RAjDBedoCJblvTjz76fMR-1f164loDIzA5gvE-Tg1lOAY
> .
@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/v3.0.0/void/
> .
dgn-np:NP629872.RAjDBedoCJblvTjz76fMR-1f164loDIzA5gvE-Tg1lOAY130_head
{
this:
np:hasAssertion
dgn-np:NP629872.RAjDBedoCJblvTjz76fMR-1f164loDIzA5gvE-Tg1lOAY130_assertion
;
np:hasProvenance
dgn-np:NP629872.RAjDBedoCJblvTjz76fMR-1f164loDIzA5gvE-Tg1lOAY130_provenance
;
np:hasPublicationInfo
dgn-np:NP629872.RAjDBedoCJblvTjz76fMR-1f164loDIzA5gvE-Tg1lOAY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP629872.RAjDBedoCJblvTjz76fMR-1f164loDIzA5gvE-Tg1lOAY130_assertion
a
np:Assertion
.
dgn-np:NP629872.RAjDBedoCJblvTjz76fMR-1f164loDIzA5gvE-Tg1lOAY130_provenance
a
np:Provenance
.
dgn-np:NP629872.RAjDBedoCJblvTjz76fMR-1f164loDIzA5gvE-Tg1lOAY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP629872.RAjDBedoCJblvTjz76fMR-1f164loDIzA5gvE-Tg1lOAY130_assertion
{
miriam-gene:5339
a
ncit:C16612
.
lld:C1458156
a
ncit:C7057
.
dgn-gda:DGNc6ae7a658e60ae8331c2608bc8e63e2e
sio:SIO_000628
miriam-gene:5339
,
lld:C1458156
;
a
sio:SIO_001121
.
}
dgn-np:NP629872.RAjDBedoCJblvTjz76fMR-1f164loDIzA5gvE-Tg1lOAY130_provenance
{
dgn-np:NP629872.RAjDBedoCJblvTjz76fMR-1f164loDIzA5gvE-Tg1lOAY130_assertion
dcterms:description
"[Collectively, these observations attest to the phenotypic spectrum of plectin mutations, and provide the basis for accurate genetic counselling with prognostic implications, as well as for prenatal diagnosis in families at the risk of recurrence of the disease.]. 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:15810881
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP629872.RAjDBedoCJblvTjz76fMR-1f164loDIzA5gvE-Tg1lOAY130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:57+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}