@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP778303.RAdWPCr6nmdNSG5giYoSXvJyoLWPqHVjAig8TsmB-CO0s
> .
@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:NP778303.RAdWPCr6nmdNSG5giYoSXvJyoLWPqHVjAig8TsmB-CO0s130_head
{
this:
np:hasAssertion
dgn-np:NP778303.RAdWPCr6nmdNSG5giYoSXvJyoLWPqHVjAig8TsmB-CO0s130_assertion
;
np:hasProvenance
dgn-np:NP778303.RAdWPCr6nmdNSG5giYoSXvJyoLWPqHVjAig8TsmB-CO0s130_provenance
;
np:hasPublicationInfo
dgn-np:NP778303.RAdWPCr6nmdNSG5giYoSXvJyoLWPqHVjAig8TsmB-CO0s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP778303.RAdWPCr6nmdNSG5giYoSXvJyoLWPqHVjAig8TsmB-CO0s130_assertion
a
np:Assertion
.
dgn-np:NP778303.RAdWPCr6nmdNSG5giYoSXvJyoLWPqHVjAig8TsmB-CO0s130_provenance
a
np:Provenance
.
dgn-np:NP778303.RAdWPCr6nmdNSG5giYoSXvJyoLWPqHVjAig8TsmB-CO0s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP778303.RAdWPCr6nmdNSG5giYoSXvJyoLWPqHVjAig8TsmB-CO0s130_assertion
{
miriam-gene:1144
a
ncit:C16612
.
lld:C1276035
a
ncit:C7057
.
dgn-gda:DGNd3a15a0ebdaf9607393d492a811e335c
sio:SIO_000628
miriam-gene:1144
,
lld:C1276035
;
a
sio:SIO_001121
.
}
dgn-np:NP778303.RAdWPCr6nmdNSG5giYoSXvJyoLWPqHVjAig8TsmB-CO0s130_provenance
{
dgn-np:NP778303.RAdWPCr6nmdNSG5giYoSXvJyoLWPqHVjAig8TsmB-CO0s130_assertion
dcterms:description
"[Genetic analysis of mutations in the neuromuscular junction genes such as CHRNA1, CHRND, CHRNG, CNTN1, DOK7, RAPSN, and SYNE1 may unveil the pathogenetic cause of fetal akinesia deformation sequence and multiple pterygium syndrome, and the information acquired is helpful for genetic counseling and clinical management.]. 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:22482962
;
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:NP778303.RAdWPCr6nmdNSG5giYoSXvJyoLWPqHVjAig8TsmB-CO0s130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:51+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" .
}