@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP329111.RAAWV-xi0TZ2H0sWqvTTKB9WPqtbK1zUpKDu5AIARS9K8
> .
@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:NP329111.RAAWV-xi0TZ2H0sWqvTTKB9WPqtbK1zUpKDu5AIARS9K8130_head
{
this:
np:hasAssertion
dgn-np:NP329111.RAAWV-xi0TZ2H0sWqvTTKB9WPqtbK1zUpKDu5AIARS9K8130_assertion
;
np:hasProvenance
dgn-np:NP329111.RAAWV-xi0TZ2H0sWqvTTKB9WPqtbK1zUpKDu5AIARS9K8130_provenance
;
np:hasPublicationInfo
dgn-np:NP329111.RAAWV-xi0TZ2H0sWqvTTKB9WPqtbK1zUpKDu5AIARS9K8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP329111.RAAWV-xi0TZ2H0sWqvTTKB9WPqtbK1zUpKDu5AIARS9K8130_assertion
a
np:Assertion
.
dgn-np:NP329111.RAAWV-xi0TZ2H0sWqvTTKB9WPqtbK1zUpKDu5AIARS9K8130_provenance
a
np:Provenance
.
dgn-np:NP329111.RAAWV-xi0TZ2H0sWqvTTKB9WPqtbK1zUpKDu5AIARS9K8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP329111.RAAWV-xi0TZ2H0sWqvTTKB9WPqtbK1zUpKDu5AIARS9K8130_assertion
{
miriam-gene:8291
a
ncit:C16612
.
lld:C1850808
a
ncit:C7057
.
dgn-gda:DGN3a18d4e05a8ff9280e48ed0c43ec9eef
sio:SIO_000628
miriam-gene:8291
,
lld:C1850808
;
a
sio:SIO_001121
.
}
dgn-np:NP329111.RAAWV-xi0TZ2H0sWqvTTKB9WPqtbK1zUpKDu5AIARS9K8130_provenance
{
dgn-np:NP329111.RAAWV-xi0TZ2H0sWqvTTKB9WPqtbK1zUpKDu5AIARS9K8130_assertion
dcterms:description
"[Dysferlin is a surface membrane protein in skeletal muscle whose deficiency causes distal and proximal, recessively inherited, forms of muscular dystrophy designated Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B), respectively.]. 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:11532985
;
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:NP329111.RAAWV-xi0TZ2H0sWqvTTKB9WPqtbK1zUpKDu5AIARS9K8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:14+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" .
}