@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP619886.RAwMXjzpXjjiAPFAg6kGcZ0VuTiZRh8maHrCXd63loBVA
> .
@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:NP619886.RAwMXjzpXjjiAPFAg6kGcZ0VuTiZRh8maHrCXd63loBVA130_head
{
this:
np:hasAssertion
dgn-np:NP619886.RAwMXjzpXjjiAPFAg6kGcZ0VuTiZRh8maHrCXd63loBVA130_assertion
;
np:hasProvenance
dgn-np:NP619886.RAwMXjzpXjjiAPFAg6kGcZ0VuTiZRh8maHrCXd63loBVA130_provenance
;
np:hasPublicationInfo
dgn-np:NP619886.RAwMXjzpXjjiAPFAg6kGcZ0VuTiZRh8maHrCXd63loBVA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP619886.RAwMXjzpXjjiAPFAg6kGcZ0VuTiZRh8maHrCXd63loBVA130_assertion
a
np:Assertion
.
dgn-np:NP619886.RAwMXjzpXjjiAPFAg6kGcZ0VuTiZRh8maHrCXd63loBVA130_provenance
a
np:Provenance
.
dgn-np:NP619886.RAwMXjzpXjjiAPFAg6kGcZ0VuTiZRh8maHrCXd63loBVA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP619886.RAwMXjzpXjjiAPFAg6kGcZ0VuTiZRh8maHrCXd63loBVA130_assertion
{
miriam-gene:6607
a
ncit:C16612
.
lld:C0026847
a
ncit:C7057
.
dgn-gda:DGN5e0b628bd2be67630cab1f9cedf962d6
sio:SIO_000628
miriam-gene:6607
,
lld:C0026847
;
a
sio:SIO_001121
.
}
dgn-np:NP619886.RAwMXjzpXjjiAPFAg6kGcZ0VuTiZRh8maHrCXd63loBVA130_provenance
{
dgn-np:NP619886.RAwMXjzpXjjiAPFAg6kGcZ0VuTiZRh8maHrCXd63loBVA130_assertion
dcterms:description
"[Development and incorporation of the SMN1 dosage assay into the molecular diagnostic service will increase the percentage of cases in which the diagnosis of SMA can be confirmed and allow preclinical and prenatal diagnosis.]. 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:17627822
;
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:NP619886.RAwMXjzpXjjiAPFAg6kGcZ0VuTiZRh8maHrCXd63loBVA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:26+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" .
}