@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP595086.RAjohUt0kfGOuyeKjGYGT7f7v8YBThv-AZ6C1DRQgMAZg
> .
@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:NP595086.RAjohUt0kfGOuyeKjGYGT7f7v8YBThv-AZ6C1DRQgMAZg130_head
{
this:
np:hasAssertion
dgn-np:NP595086.RAjohUt0kfGOuyeKjGYGT7f7v8YBThv-AZ6C1DRQgMAZg130_assertion
;
np:hasProvenance
dgn-np:NP595086.RAjohUt0kfGOuyeKjGYGT7f7v8YBThv-AZ6C1DRQgMAZg130_provenance
;
np:hasPublicationInfo
dgn-np:NP595086.RAjohUt0kfGOuyeKjGYGT7f7v8YBThv-AZ6C1DRQgMAZg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP595086.RAjohUt0kfGOuyeKjGYGT7f7v8YBThv-AZ6C1DRQgMAZg130_assertion
a
np:Assertion
.
dgn-np:NP595086.RAjohUt0kfGOuyeKjGYGT7f7v8YBThv-AZ6C1DRQgMAZg130_provenance
a
np:Provenance
.
dgn-np:NP595086.RAjohUt0kfGOuyeKjGYGT7f7v8YBThv-AZ6C1DRQgMAZg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP595086.RAjohUt0kfGOuyeKjGYGT7f7v8YBThv-AZ6C1DRQgMAZg130_assertion
{
miriam-gene:1756
a
ncit:C16612
.
lld:C0013264
a
ncit:C7057
.
dgn-gda:DGN2916c569287348912659a798506dc497
sio:SIO_000628
miriam-gene:1756
,
lld:C0013264
;
a
sio:SIO_001121
.
}
dgn-np:NP595086.RAjohUt0kfGOuyeKjGYGT7f7v8YBThv-AZ6C1DRQgMAZg130_provenance
{
dgn-np:NP595086.RAjohUt0kfGOuyeKjGYGT7f7v8YBThv-AZ6C1DRQgMAZg130_assertion
dcterms:description
"[To explain the observation of 3/23 FCMD males with abnormal dystrophin, we propose that dystrophin and the FCMD gene product interact and that the earlier onset and greater severity of these patients' phenotype (relative to Duchenne muscular dystrophy) are due to their being heterozygous for the FCMD mutation in addition to being hemizygous for Duchenne muscular dystrophy, a genotype that is predicted to occur in 1/175,000 Japanese males.]. 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:1731332
;
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:NP595086.RAjohUt0kfGOuyeKjGYGT7f7v8YBThv-AZ6C1DRQgMAZg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:15+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" .
}