@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58
> .
@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:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_head
{
this:
np:hasAssertion
dgn-np:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_assertion
;
np:hasProvenance
dgn-np:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_provenance
;
np:hasPublicationInfo
dgn-np:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_assertion
a
np:Assertion
.
dgn-np:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_provenance
a
np:Provenance
.
dgn-np:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_assertion
{
miriam-gene:1146
a
ncit:C16612
.
lld:C1276035
a
ncit:C7057
.
dgn-gda:DGNb10c1060bce6ac6cf358d0dc0aa18930
sio:SIO_000628
miriam-gene:1146
,
lld:C1276035
;
a
sio:SIO_001121
.
}
dgn-np:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_provenance
{
dgn-np:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_assertion
dcterms:description
"[Acetylcholine receptor (AChR) components are suspects because mutations in the fetally expressed gamma subunit (CHRNG) of AChR were found in two FADS disorders, lethal multiple pterygium syndrome (LMPS) and Escobar syndrome.]. 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:18252226
;
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:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:20+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" .
}