@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q
> .
@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:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_head
{
this:
np:hasAssertion
dgn-np:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_assertion
;
np:hasProvenance
dgn-np:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_assertion
a
np:Assertion
.
dgn-np:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_provenance
a
np:Provenance
.
dgn-np:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_assertion
{
miriam-gene:6683
a
ncit:C16612
.
lld:C0085621
a
ncit:C7057
.
dgn-gda:DGNccd51d3bec2fc15cb4b75eb8e618e82a
sio:SIO_000628
miriam-gene:6683
,
lld:C0085621
;
a
sio:SIO_001122
.
}
dgn-np:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_provenance
{
dgn-np:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_assertion
dcterms:description
"[ To our knowledge, this is the first report of SPG4 mutations in the People's Republic of China. The percentage of involved Chinese families with autosomal dominant hereditary spastic paraplegia with an SPG4 mutation is 18% (4/22), lower than the estimated 40% linked to this locus.]. 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:14732620
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:23+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" .
}