@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP280707.RAaXVAiqNPWixsRgOREy-U2qwxUXitMY_2B6NiPPrH5-s
> .
@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:NP280707.RAaXVAiqNPWixsRgOREy-U2qwxUXitMY_2B6NiPPrH5-s130_head
{
this:
np:hasAssertion
dgn-np:NP280707.RAaXVAiqNPWixsRgOREy-U2qwxUXitMY_2B6NiPPrH5-s130_assertion
;
np:hasProvenance
dgn-np:NP280707.RAaXVAiqNPWixsRgOREy-U2qwxUXitMY_2B6NiPPrH5-s130_provenance
;
np:hasPublicationInfo
dgn-np:NP280707.RAaXVAiqNPWixsRgOREy-U2qwxUXitMY_2B6NiPPrH5-s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP280707.RAaXVAiqNPWixsRgOREy-U2qwxUXitMY_2B6NiPPrH5-s130_assertion
a
np:Assertion
.
dgn-np:NP280707.RAaXVAiqNPWixsRgOREy-U2qwxUXitMY_2B6NiPPrH5-s130_provenance
a
np:Provenance
.
dgn-np:NP280707.RAaXVAiqNPWixsRgOREy-U2qwxUXitMY_2B6NiPPrH5-s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP280707.RAaXVAiqNPWixsRgOREy-U2qwxUXitMY_2B6NiPPrH5-s130_assertion
{
miriam-gene:7555
a
ncit:C16612
.
lld:C0752354
a
ncit:C7057
.
dgn-gda:DGN4866f7d6bb3b692b6dee513c6b13e373
sio:SIO_000628
miriam-gene:7555
,
lld:C0752354
;
a
sio:SIO_001121
.
}
dgn-np:NP280707.RAaXVAiqNPWixsRgOREy-U2qwxUXitMY_2B6NiPPrH5-s130_provenance
{
dgn-np:NP280707.RAaXVAiqNPWixsRgOREy-U2qwxUXitMY_2B6NiPPrH5-s130_assertion
dcterms:description
"[Proximal myotonic myopathy (DM2, PROMM) has not been reported in patients younger than 18 years, and apparent lack of congenital and childhood forms is thought to be one of the distinctive clinical characteristics of this trait.]. 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:18484632
;
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:NP280707.RAaXVAiqNPWixsRgOREy-U2qwxUXitMY_2B6NiPPrH5-s130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:38+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" .
}