@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI
> .
@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:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_head
{
this:
np:hasAssertion
dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_assertion
;
np:hasProvenance
dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_provenance
;
np:hasPublicationInfo
dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_assertion
a
np:Assertion
.
dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_provenance
a
np:Provenance
.
dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_assertion
{
miriam-gene:1756
a
ncit:C16612
.
lld:C0013264
a
ncit:C7057
.
dgn-gda:DGNda4f2359f417c01de9c8df03bc709afe
sio:SIO_000628
miriam-gene:1756
,
lld:C0013264
;
a
sio:SIO_001121
.
}
dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_provenance
{
dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_assertion
dcterms:description
"[However, it is very difficult to find patients that are applicable for this therapy, because: (1) only 5-13% of DMD patients have nonsense mutations in the dystrophin gene, (2) it is challenging to find nonsense mutations in the gene because dystrophin cDNA is very long (14 kb), and (3) the efficiency of aminoglycoside-induced read-through is dependent on the kind of nonsense mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:16122626
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:04+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" .
}