@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1352540.RAdRkJ_LFXp2nypDk7KOexJHhlCP9_kpByZgMxrlwK8-g
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP1352540.RAdRkJ_LFXp2nypDk7KOexJHhlCP9_kpByZgMxrlwK8-g130_head
{
this:
np:hasAssertion
dgn-np:NP1352540.RAdRkJ_LFXp2nypDk7KOexJHhlCP9_kpByZgMxrlwK8-g130_assertion
;
np:hasProvenance
dgn-np:NP1352540.RAdRkJ_LFXp2nypDk7KOexJHhlCP9_kpByZgMxrlwK8-g130_provenance
;
np:hasPublicationInfo
dgn-np:NP1352540.RAdRkJ_LFXp2nypDk7KOexJHhlCP9_kpByZgMxrlwK8-g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1352540.RAdRkJ_LFXp2nypDk7KOexJHhlCP9_kpByZgMxrlwK8-g130_assertion
a
np:Assertion
.
dgn-np:NP1352540.RAdRkJ_LFXp2nypDk7KOexJHhlCP9_kpByZgMxrlwK8-g130_provenance
a
np:Provenance
.
dgn-np:NP1352540.RAdRkJ_LFXp2nypDk7KOexJHhlCP9_kpByZgMxrlwK8-g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1352540.RAdRkJ_LFXp2nypDk7KOexJHhlCP9_kpByZgMxrlwK8-g130_assertion
{
miriam-gene:6607
a
ncit:C16612
.
lld:C0026847
a
ncit:C7057
.
dgn-gda:DGN54f8eaed43ae34ff49115ae88f758a21
sio:SIO_000628
miriam-gene:6607
,
lld:C0026847
;
a
sio:SIO_001121
.
}
dgn-np:NP1352540.RAdRkJ_LFXp2nypDk7KOexJHhlCP9_kpByZgMxrlwK8-g130_provenance
{
dgn-np:NP1352540.RAdRkJ_LFXp2nypDk7KOexJHhlCP9_kpByZgMxrlwK8-g130_assertion
dcterms:description
"[While the confirmation of SMN gene deletions is very useful in cases with diagnostic doubts, caution is required when offering prenatal prediction with regard to SMA 5q in families with atypical features.]. 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:8677029
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1352540.RAdRkJ_LFXp2nypDk7KOexJHhlCP9_kpByZgMxrlwK8-g130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:59+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}