@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP267318.RAkB91S2E462G7h8_NO9kJ2m2sN7SG8QRtC_Vf1T9OzXA
> .
@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:NP267318.RAkB91S2E462G7h8_NO9kJ2m2sN7SG8QRtC_Vf1T9OzXA130_head
{
this:
np:hasAssertion
dgn-np:NP267318.RAkB91S2E462G7h8_NO9kJ2m2sN7SG8QRtC_Vf1T9OzXA130_assertion
;
np:hasProvenance
dgn-np:NP267318.RAkB91S2E462G7h8_NO9kJ2m2sN7SG8QRtC_Vf1T9OzXA130_provenance
;
np:hasPublicationInfo
dgn-np:NP267318.RAkB91S2E462G7h8_NO9kJ2m2sN7SG8QRtC_Vf1T9OzXA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP267318.RAkB91S2E462G7h8_NO9kJ2m2sN7SG8QRtC_Vf1T9OzXA130_assertion
a
np:Assertion
.
dgn-np:NP267318.RAkB91S2E462G7h8_NO9kJ2m2sN7SG8QRtC_Vf1T9OzXA130_provenance
a
np:Provenance
.
dgn-np:NP267318.RAkB91S2E462G7h8_NO9kJ2m2sN7SG8QRtC_Vf1T9OzXA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP267318.RAkB91S2E462G7h8_NO9kJ2m2sN7SG8QRtC_Vf1T9OzXA130_assertion
{
miriam-gene:10383
a
ncit:C16612
.
lld:C0751882
a
ncit:C7057
.
dgn-gda:DGN21e938d7ccd68a5bef6b97e1debddfc4
sio:SIO_000628
miriam-gene:10383
,
lld:C0751882
;
a
sio:SIO_001121
.
}
dgn-np:NP267318.RAkB91S2E462G7h8_NO9kJ2m2sN7SG8QRtC_Vf1T9OzXA130_provenance
{
dgn-np:NP267318.RAkB91S2E462G7h8_NO9kJ2m2sN7SG8QRtC_Vf1T9OzXA130_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:NP267318.RAkB91S2E462G7h8_NO9kJ2m2sN7SG8QRtC_Vf1T9OzXA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:29+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" .
}