@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40
> .
@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:NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_head
{
this:
np:hasAssertion
dgn-np:NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_assertion
;
np:hasProvenance
dgn-np:NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_provenance
;
np:hasPublicationInfo
dgn-np:NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_assertion
a
np:Assertion
.
dgn-np:NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_provenance
a
np:Provenance
.
dgn-np:NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_assertion
{
miriam-gene:3028
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGN159c999ac4a0df333715d963efebfce1
sio:SIO_000628
miriam-gene:3028
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_provenance
{
dgn-np:NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_assertion
dcterms:description
"[The c.194T>C mutation in HSD17B10 can be identified by the restriction fragment polymorphism analysis, thereby facilitating the screening of this novel mutation in individuals with intellectual disability of unknown etiology and their family members much easier.]. 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:22132097
;
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:NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:16+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" .
}