@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1088313.RAkOSEeQ7I0XCTg_i1g0zxoH2OwCse9Nl5Z7r7g3gOAe4
> .
@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:NP1088313.RAkOSEeQ7I0XCTg_i1g0zxoH2OwCse9Nl5Z7r7g3gOAe4130_head
{
this:
np:hasAssertion
dgn-np:NP1088313.RAkOSEeQ7I0XCTg_i1g0zxoH2OwCse9Nl5Z7r7g3gOAe4130_assertion
;
np:hasProvenance
dgn-np:NP1088313.RAkOSEeQ7I0XCTg_i1g0zxoH2OwCse9Nl5Z7r7g3gOAe4130_provenance
;
np:hasPublicationInfo
dgn-np:NP1088313.RAkOSEeQ7I0XCTg_i1g0zxoH2OwCse9Nl5Z7r7g3gOAe4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1088313.RAkOSEeQ7I0XCTg_i1g0zxoH2OwCse9Nl5Z7r7g3gOAe4130_assertion
a
np:Assertion
.
dgn-np:NP1088313.RAkOSEeQ7I0XCTg_i1g0zxoH2OwCse9Nl5Z7r7g3gOAe4130_provenance
a
np:Provenance
.
dgn-np:NP1088313.RAkOSEeQ7I0XCTg_i1g0zxoH2OwCse9Nl5Z7r7g3gOAe4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1088313.RAkOSEeQ7I0XCTg_i1g0zxoH2OwCse9Nl5Z7r7g3gOAe4130_assertion
{
miriam-gene:4000
a
ncit:C16612
.
lld:C1533847
a
ncit:C7057
.
dgn-gda:DGN952a3098168782d2982334af7883096c
sio:SIO_000628
miriam-gene:4000
,
lld:C1533847
;
a
sio:SIO_001122
.
}
dgn-np:NP1088313.RAkOSEeQ7I0XCTg_i1g0zxoH2OwCse9Nl5Z7r7g3gOAe4130_provenance
{
dgn-np:NP1088313.RAkOSEeQ7I0XCTg_i1g0zxoH2OwCse9Nl5Z7r7g3gOAe4130_assertion
dcterms:description
"[This reveals that the LMNA gene insertion mutation (T510Y frameshift mutation) can cause dilated cardiomyopathy, conduction system disease, and sudden cardiac death without skeletal myopathy, clinically manifested with early onset, severe symptoms, and poor prognosis.]. 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:23793583
;
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:NP1088313.RAkOSEeQ7I0XCTg_i1g0zxoH2OwCse9Nl5Z7r7g3gOAe4130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:59+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" .
}