@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ
> .
@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:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_head
{
this:
np:hasAssertion
dgn-np:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_assertion
;
np:hasProvenance
dgn-np:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_assertion
a
np:Assertion
.
dgn-np:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_provenance
a
np:Provenance
.
dgn-np:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_assertion
{
miriam-gene:54332
a
ncit:C16612
.
lld:C0007959
a
ncit:C7057
.
dgn-gda:DGN1680aadb2594da1b6a3b6af24dd748a0
sio:SIO_000628
miriam-gene:54332
,
lld:C0007959
;
a
sio:SIO_001121
.
}
dgn-np:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_provenance
{
dgn-np:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_assertion
dcterms:description
"[These Spanish families share in the severe CMT clinical phenotype with some Tunisian families who also presented mutations in the GDAP1 gene and to which the CMT4A locus was originally assigned.]. 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:12821518
;
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:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:06+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" .
}