@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP599042.RAq37TOfKParWkm4c7vFonWYT0m8DttnSIpsbo2rJ2mw0
> .
@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:NP599042.RAq37TOfKParWkm4c7vFonWYT0m8DttnSIpsbo2rJ2mw0130_head
{
this:
np:hasAssertion
dgn-np:NP599042.RAq37TOfKParWkm4c7vFonWYT0m8DttnSIpsbo2rJ2mw0130_assertion
;
np:hasProvenance
dgn-np:NP599042.RAq37TOfKParWkm4c7vFonWYT0m8DttnSIpsbo2rJ2mw0130_provenance
;
np:hasPublicationInfo
dgn-np:NP599042.RAq37TOfKParWkm4c7vFonWYT0m8DttnSIpsbo2rJ2mw0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP599042.RAq37TOfKParWkm4c7vFonWYT0m8DttnSIpsbo2rJ2mw0130_assertion
a
np:Assertion
.
dgn-np:NP599042.RAq37TOfKParWkm4c7vFonWYT0m8DttnSIpsbo2rJ2mw0130_provenance
a
np:Provenance
.
dgn-np:NP599042.RAq37TOfKParWkm4c7vFonWYT0m8DttnSIpsbo2rJ2mw0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP599042.RAq37TOfKParWkm4c7vFonWYT0m8DttnSIpsbo2rJ2mw0130_assertion
{
miriam-gene:1639
a
ncit:C16612
.
lld:C0002736
a
ncit:C7057
.
dgn-gda:DGN4d5aa12fe696a94e6968cd301644639a
sio:SIO_000628
miriam-gene:1639
,
lld:C0002736
;
a
sio:SIO_001121
.
}
dgn-np:NP599042.RAq37TOfKParWkm4c7vFonWYT0m8DttnSIpsbo2rJ2mw0130_provenance
{
dgn-np:NP599042.RAq37TOfKParWkm4c7vFonWYT0m8DttnSIpsbo2rJ2mw0130_assertion
dcterms:description
"[Heterozygous missense mutations of the DCTN1 gene were detected in one apparently sporadic case of ALS (T1249I), one individual with familial ALS (M571T), two patients with familial ALS, and two unaffected relatives in the same kindred (R785W).]. 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:15326253
;
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:NP599042.RAq37TOfKParWkm4c7vFonWYT0m8DttnSIpsbo2rJ2mw0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:00+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" .
}