@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE
> .
@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:NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_head
{
this:
np:hasAssertion
dgn-np:NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_assertion
;
np:hasProvenance
dgn-np:NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_provenance
;
np:hasPublicationInfo
dgn-np:NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_assertion
a
np:Assertion
.
dgn-np:NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_provenance
a
np:Provenance
.
dgn-np:NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_assertion
{
miriam-gene:1180
a
ncit:C16612
.
lld:C0027127
a
ncit:C7057
.
dgn-gda:DGN1f607aa8459eb291d16897a58dbf7a2a
sio:SIO_000628
miriam-gene:1180
,
lld:C0027127
;
a
sio:SIO_001121
.
}
dgn-np:NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_provenance
{
dgn-np:NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_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_literature
;
sio:SIO_000772
miriam-pubmed:10215406
;
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:NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:40+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" .
}