@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP355090.RAFJF7hfQtsZPeceHfTim6y81Uj1Nb_vKB-Y-H09-ePsM
> .
@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:NP355090.RAFJF7hfQtsZPeceHfTim6y81Uj1Nb_vKB-Y-H09-ePsM130_head
{
this:
np:hasAssertion
dgn-np:NP355090.RAFJF7hfQtsZPeceHfTim6y81Uj1Nb_vKB-Y-H09-ePsM130_assertion
;
np:hasProvenance
dgn-np:NP355090.RAFJF7hfQtsZPeceHfTim6y81Uj1Nb_vKB-Y-H09-ePsM130_provenance
;
np:hasPublicationInfo
dgn-np:NP355090.RAFJF7hfQtsZPeceHfTim6y81Uj1Nb_vKB-Y-H09-ePsM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP355090.RAFJF7hfQtsZPeceHfTim6y81Uj1Nb_vKB-Y-H09-ePsM130_assertion
a
np:Assertion
.
dgn-np:NP355090.RAFJF7hfQtsZPeceHfTim6y81Uj1Nb_vKB-Y-H09-ePsM130_provenance
a
np:Provenance
.
dgn-np:NP355090.RAFJF7hfQtsZPeceHfTim6y81Uj1Nb_vKB-Y-H09-ePsM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP355090.RAFJF7hfQtsZPeceHfTim6y81Uj1Nb_vKB-Y-H09-ePsM130_assertion
{
miriam-gene:4000
a
ncit:C16612
.
lld:C0271694
a
ncit:C7057
.
dgn-gda:DGN63dcb1a0546ec98f99beeb991354b059
sio:SIO_000628
miriam-gene:4000
,
lld:C0271694
;
a
sio:SIO_001121
.
}
dgn-np:NP355090.RAFJF7hfQtsZPeceHfTim6y81Uj1Nb_vKB-Y-H09-ePsM130_provenance
{
dgn-np:NP355090.RAFJF7hfQtsZPeceHfTim6y81Uj1Nb_vKB-Y-H09-ePsM130_assertion
dcterms:description
"[Novel genetic defects in the LMNA gene in two families with the Dunnigan variety of familial partial lipodystrophy, cardiac conduction system defects, and other manifestations related to cardiomyopathy suggest the occurrence of a multisystem dystrophy syndrome due to LMNA 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:12015247
;
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:NP355090.RAFJF7hfQtsZPeceHfTim6y81Uj1Nb_vKB-Y-H09-ePsM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:26+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" .
}