@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP130.RA57S9XodrWfGaRIyqvcv2YaiCO6PItCgGPKFtsLwLLoI
> .
@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 np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP130.RA57S9XodrWfGaRIyqvcv2YaiCO6PItCgGPKFtsLwLLoI130_head
{
this:
np:hasAssertion
dgn-np:NP130.RA57S9XodrWfGaRIyqvcv2YaiCO6PItCgGPKFtsLwLLoI130_assertion
;
np:hasProvenance
dgn-np:NP130.RA57S9XodrWfGaRIyqvcv2YaiCO6PItCgGPKFtsLwLLoI130_provenance
;
np:hasPublicationInfo
dgn-np:NP130.RA57S9XodrWfGaRIyqvcv2YaiCO6PItCgGPKFtsLwLLoI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP130.RA57S9XodrWfGaRIyqvcv2YaiCO6PItCgGPKFtsLwLLoI130_assertion
a
np:Assertion
.
dgn-np:NP130.RA57S9XodrWfGaRIyqvcv2YaiCO6PItCgGPKFtsLwLLoI130_provenance
a
np:Provenance
.
dgn-np:NP130.RA57S9XodrWfGaRIyqvcv2YaiCO6PItCgGPKFtsLwLLoI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP130.RA57S9XodrWfGaRIyqvcv2YaiCO6PItCgGPKFtsLwLLoI130_assertion
{
miriam-gene:1180
a
ncit:C16612
.
lld:C0751360
a
ncit:C7057
.
dgn-gda:DGN6bd679039388ad7b1ed96e184b810041
sio:SIO_000628
miriam-gene:1180
,
lld:C0751360
;
a
sio:SIO_001122
.
}
dgn-np:NP130.RA57S9XodrWfGaRIyqvcv2YaiCO6PItCgGPKFtsLwLLoI130_provenance
{
dgn-np:NP130.RA57S9XodrWfGaRIyqvcv2YaiCO6PItCgGPKFtsLwLLoI130_assertion
dcterms:description
"[Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:10215406
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP130.RA57S9XodrWfGaRIyqvcv2YaiCO6PItCgGPKFtsLwLLoI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:50+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" .
}