@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP798916.RAxPLkBi9FwuCSE9kGP1evKfXnHKrECWcsjvL9nqMp0f4
> .
@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:NP798916.RAxPLkBi9FwuCSE9kGP1evKfXnHKrECWcsjvL9nqMp0f4130_head
{
this:
np:hasAssertion
dgn-np:NP798916.RAxPLkBi9FwuCSE9kGP1evKfXnHKrECWcsjvL9nqMp0f4130_assertion
;
np:hasProvenance
dgn-np:NP798916.RAxPLkBi9FwuCSE9kGP1evKfXnHKrECWcsjvL9nqMp0f4130_provenance
;
np:hasPublicationInfo
dgn-np:NP798916.RAxPLkBi9FwuCSE9kGP1evKfXnHKrECWcsjvL9nqMp0f4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP798916.RAxPLkBi9FwuCSE9kGP1evKfXnHKrECWcsjvL9nqMp0f4130_assertion
a
np:Assertion
.
dgn-np:NP798916.RAxPLkBi9FwuCSE9kGP1evKfXnHKrECWcsjvL9nqMp0f4130_provenance
a
np:Provenance
.
dgn-np:NP798916.RAxPLkBi9FwuCSE9kGP1evKfXnHKrECWcsjvL9nqMp0f4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP798916.RAxPLkBi9FwuCSE9kGP1evKfXnHKrECWcsjvL9nqMp0f4130_assertion
{
miriam-gene:2477
a
ncit:C16612
.
lld:C0235031
a
ncit:C7057
.
dgn-gda:DGN6fb5718c6797a0a1ca3d97ccfdaf65c9
sio:SIO_000628
miriam-gene:2477
,
lld:C0235031
;
a
sio:SIO_001121
.
}
dgn-np:NP798916.RAxPLkBi9FwuCSE9kGP1evKfXnHKrECWcsjvL9nqMp0f4130_provenance
{
dgn-np:NP798916.RAxPLkBi9FwuCSE9kGP1evKfXnHKrECWcsjvL9nqMp0f4130_assertion
dcterms:description
"[The work-up of families with the FMR1 mutation should include questions regarding neurological symptoms in both older male and female carriers, with the expectation that females may also manifest the symptoms of FXTAS, although more subtly and less often than their male counterparts.]. 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:15065016
;
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:NP798916.RAxPLkBi9FwuCSE9kGP1evKfXnHKrECWcsjvL9nqMp0f4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:10+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" .
}