@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP640166.RApBvQHY2px0iMZY-yg2dZlxpcvXjCk-voUxxJ6boTMdw
> .
@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#
> .
dgn-np:NP640166.RApBvQHY2px0iMZY-yg2dZlxpcvXjCk-voUxxJ6boTMdw130_head
{
this:
np:hasAssertion
dgn-np:NP640166.RApBvQHY2px0iMZY-yg2dZlxpcvXjCk-voUxxJ6boTMdw130_assertion
;
np:hasProvenance
dgn-np:NP640166.RApBvQHY2px0iMZY-yg2dZlxpcvXjCk-voUxxJ6boTMdw130_provenance
;
np:hasPublicationInfo
dgn-np:NP640166.RApBvQHY2px0iMZY-yg2dZlxpcvXjCk-voUxxJ6boTMdw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP640166.RApBvQHY2px0iMZY-yg2dZlxpcvXjCk-voUxxJ6boTMdw130_assertion
a
np:Assertion
.
dgn-np:NP640166.RApBvQHY2px0iMZY-yg2dZlxpcvXjCk-voUxxJ6boTMdw130_provenance
a
np:Provenance
.
dgn-np:NP640166.RApBvQHY2px0iMZY-yg2dZlxpcvXjCk-voUxxJ6boTMdw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP640166.RApBvQHY2px0iMZY-yg2dZlxpcvXjCk-voUxxJ6boTMdw130_assertion
{
miriam-gene:4000
a
ncit:C16612
.
lld:C0007959
a
ncit:C7057
.
dgn-gda:DGN487784b478a5e3fa38d42296589a08ce
sio:SIO_000628
miriam-gene:4000
,
lld:C0007959
;
a
sio:SIO_001121
.
}
dgn-np:NP640166.RApBvQHY2px0iMZY-yg2dZlxpcvXjCk-voUxxJ6boTMdw130_provenance
{
dgn-np:NP640166.RApBvQHY2px0iMZY-yg2dZlxpcvXjCk-voUxxJ6boTMdw130_assertion
dcterms:description
"[Genetic analysis of large families with recessive transmission has proved to be an efficient mean of discovering novel CMT genotypes (eg, the genes GDAP1, MTMR2, MTMR13, KIAA1985, NDGR1, periaxin, and lamin).]. 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:15324608
;
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:NP640166.RApBvQHY2px0iMZY-yg2dZlxpcvXjCk-voUxxJ6boTMdw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:26+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: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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}