@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP773208.RAVvwF0GA_UQ2qEfoC__t2FValbqYLEw6VBAxu_-V_ya0
> .
@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:NP773208.RAVvwF0GA_UQ2qEfoC__t2FValbqYLEw6VBAxu_-V_ya0130_head
{
this:
np:hasAssertion
dgn-np:NP773208.RAVvwF0GA_UQ2qEfoC__t2FValbqYLEw6VBAxu_-V_ya0130_assertion
;
np:hasProvenance
dgn-np:NP773208.RAVvwF0GA_UQ2qEfoC__t2FValbqYLEw6VBAxu_-V_ya0130_provenance
;
np:hasPublicationInfo
dgn-np:NP773208.RAVvwF0GA_UQ2qEfoC__t2FValbqYLEw6VBAxu_-V_ya0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP773208.RAVvwF0GA_UQ2qEfoC__t2FValbqYLEw6VBAxu_-V_ya0130_assertion
a
np:Assertion
.
dgn-np:NP773208.RAVvwF0GA_UQ2qEfoC__t2FValbqYLEw6VBAxu_-V_ya0130_provenance
a
np:Provenance
.
dgn-np:NP773208.RAVvwF0GA_UQ2qEfoC__t2FValbqYLEw6VBAxu_-V_ya0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP773208.RAVvwF0GA_UQ2qEfoC__t2FValbqYLEw6VBAxu_-V_ya0130_assertion
{
miriam-gene:1180
a
ncit:C16612
.
lld:C2936781
a
ncit:C7057
.
dgn-gda:DGN9184dd43e2c73f606abf1a2bfe634142
sio:SIO_000628
miriam-gene:1180
,
lld:C2936781
;
a
sio:SIO_001122
.
}
dgn-np:NP773208.RAVvwF0GA_UQ2qEfoC__t2FValbqYLEw6VBAxu_-V_ya0130_provenance
{
dgn-np:NP773208.RAVvwF0GA_UQ2qEfoC__t2FValbqYLEw6VBAxu_-V_ya0130_assertion
dcterms:description
"[A parallel was drawn between this unprecedented situation and that of myotonia congenita by including patients homozygous or heterozygous for the CLCN1 I556N channel mutation, which is known for incomplete dominance and penetrance.]. 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:19882638
;
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:NP773208.RAVvwF0GA_UQ2qEfoC__t2FValbqYLEw6VBAxu_-V_ya0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:35+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" .
}