@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP342985.RArj7Uy0Gzh-DPUlYlqnObrkZ8bHIOynbiLaZ-sPD7IGo
> .
@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:NP342985.RArj7Uy0Gzh-DPUlYlqnObrkZ8bHIOynbiLaZ-sPD7IGo130_head
{
this:
np:hasAssertion
dgn-np:NP342985.RArj7Uy0Gzh-DPUlYlqnObrkZ8bHIOynbiLaZ-sPD7IGo130_assertion
;
np:hasProvenance
dgn-np:NP342985.RArj7Uy0Gzh-DPUlYlqnObrkZ8bHIOynbiLaZ-sPD7IGo130_provenance
;
np:hasPublicationInfo
dgn-np:NP342985.RArj7Uy0Gzh-DPUlYlqnObrkZ8bHIOynbiLaZ-sPD7IGo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP342985.RArj7Uy0Gzh-DPUlYlqnObrkZ8bHIOynbiLaZ-sPD7IGo130_assertion
a
np:Assertion
.
dgn-np:NP342985.RArj7Uy0Gzh-DPUlYlqnObrkZ8bHIOynbiLaZ-sPD7IGo130_provenance
a
np:Provenance
.
dgn-np:NP342985.RArj7Uy0Gzh-DPUlYlqnObrkZ8bHIOynbiLaZ-sPD7IGo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP342985.RArj7Uy0Gzh-DPUlYlqnObrkZ8bHIOynbiLaZ-sPD7IGo130_assertion
{
miriam-gene:825
a
ncit:C16612
.
lld:C0263214
a
ncit:C7057
.
dgn-gda:DGNa222f965ff6d041f05b5ef0966761f04
sio:SIO_000628
miriam-gene:825
,
lld:C0263214
;
a
sio:SIO_001121
.
}
dgn-np:NP342985.RArj7Uy0Gzh-DPUlYlqnObrkZ8bHIOynbiLaZ-sPD7IGo130_provenance
{
dgn-np:NP342985.RArj7Uy0Gzh-DPUlYlqnObrkZ8bHIOynbiLaZ-sPD7IGo130_assertion
dcterms:description
"[Diagnosis of limb girdle muscular dystrophy type 2A can be complex due to phenotypic variability, lack of precision of protein analysis in muscle biopsies, and absence of mutational hot spots in the CAPN3 gene.]. 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:18055493
;
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:NP342985.RArj7Uy0Gzh-DPUlYlqnObrkZ8bHIOynbiLaZ-sPD7IGo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:21+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" .
}