@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP918896.RArKWjbFNxG-ps6ZL5PkASWobQeq6viAZGm20m-LdTiqA
> .
@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:NP918896.RArKWjbFNxG-ps6ZL5PkASWobQeq6viAZGm20m-LdTiqA130_head
{
this:
np:hasAssertion
dgn-np:NP918896.RArKWjbFNxG-ps6ZL5PkASWobQeq6viAZGm20m-LdTiqA130_assertion
;
np:hasProvenance
dgn-np:NP918896.RArKWjbFNxG-ps6ZL5PkASWobQeq6viAZGm20m-LdTiqA130_provenance
;
np:hasPublicationInfo
dgn-np:NP918896.RArKWjbFNxG-ps6ZL5PkASWobQeq6viAZGm20m-LdTiqA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP918896.RArKWjbFNxG-ps6ZL5PkASWobQeq6viAZGm20m-LdTiqA130_assertion
a
np:Assertion
.
dgn-np:NP918896.RArKWjbFNxG-ps6ZL5PkASWobQeq6viAZGm20m-LdTiqA130_provenance
a
np:Provenance
.
dgn-np:NP918896.RArKWjbFNxG-ps6ZL5PkASWobQeq6viAZGm20m-LdTiqA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP918896.RArKWjbFNxG-ps6ZL5PkASWobQeq6viAZGm20m-LdTiqA130_assertion
{
miriam-gene:1158
a
ncit:C16612
.
lld:C0206157
a
ncit:C7057
.
dgn-gda:DGNd706f7c9b4ea5e591e7e6d7247b13924
sio:SIO_000628
miriam-gene:1158
,
lld:C0206157
;
a
sio:SIO_001121
.
}
dgn-np:NP918896.RArKWjbFNxG-ps6ZL5PkASWobQeq6viAZGm20m-LdTiqA130_provenance
{
dgn-np:NP918896.RArKWjbFNxG-ps6ZL5PkASWobQeq6viAZGm20m-LdTiqA130_assertion
dcterms:description
"[In order to investigate the inheritance in congenital nemaline myopathy (CNM), we studied the family histories and pedigrees of 13 patients with CNM from 10 families, and the 20 patients, by physical examination, single fibre electromyography, ultrasonography of muscles, measurement of serum creatine kinase, muscle biopsy, and electrophoresis of muscle proteins.]. 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:2213842
;
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:NP918896.RArKWjbFNxG-ps6ZL5PkASWobQeq6viAZGm20m-LdTiqA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:24+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" .
}