@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP793530.RA5J8wqFonjoHILq-e1sRrgzDpAz5K8a2ImyT4stFejCo
> .
@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:NP793530.RA5J8wqFonjoHILq-e1sRrgzDpAz5K8a2ImyT4stFejCo130_head
{
this:
np:hasAssertion
dgn-np:NP793530.RA5J8wqFonjoHILq-e1sRrgzDpAz5K8a2ImyT4stFejCo130_assertion
;
np:hasProvenance
dgn-np:NP793530.RA5J8wqFonjoHILq-e1sRrgzDpAz5K8a2ImyT4stFejCo130_provenance
;
np:hasPublicationInfo
dgn-np:NP793530.RA5J8wqFonjoHILq-e1sRrgzDpAz5K8a2ImyT4stFejCo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP793530.RA5J8wqFonjoHILq-e1sRrgzDpAz5K8a2ImyT4stFejCo130_assertion
a
np:Assertion
.
dgn-np:NP793530.RA5J8wqFonjoHILq-e1sRrgzDpAz5K8a2ImyT4stFejCo130_provenance
a
np:Provenance
.
dgn-np:NP793530.RA5J8wqFonjoHILq-e1sRrgzDpAz5K8a2ImyT4stFejCo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP793530.RA5J8wqFonjoHILq-e1sRrgzDpAz5K8a2ImyT4stFejCo130_assertion
{
miriam-gene:84823
a
ncit:C16612
.
lld:C0751882
a
ncit:C7057
.
dgn-gda:DGN053c812e8bce2be5ed0ab25c91cc84a2
sio:SIO_000628
miriam-gene:84823
,
lld:C0751882
;
a
sio:SIO_001121
.
}
dgn-np:NP793530.RA5J8wqFonjoHILq-e1sRrgzDpAz5K8a2ImyT4stFejCo130_provenance
{
dgn-np:NP793530.RA5J8wqFonjoHILq-e1sRrgzDpAz5K8a2ImyT4stFejCo130_assertion
dcterms:description
"[This case, which represents a new type of synaptic CMS, exemplifies the wide variability of phenotypes associated with LAMB2 mutations and underscores the fundamental role that laminin beta2 plays in the development of the human neuromuscular junction.]. 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:19251977
;
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:NP793530.RA5J8wqFonjoHILq-e1sRrgzDpAz5K8a2ImyT4stFejCo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:07+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" .
}