@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP325601.RAKnx0c5aGGp4jUfCaZOfkAXQOSUd-aVvCHxxP3w8oogk
> .
@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:NP325601.RAKnx0c5aGGp4jUfCaZOfkAXQOSUd-aVvCHxxP3w8oogk130_head
{
this:
np:hasAssertion
dgn-np:NP325601.RAKnx0c5aGGp4jUfCaZOfkAXQOSUd-aVvCHxxP3w8oogk130_assertion
;
np:hasProvenance
dgn-np:NP325601.RAKnx0c5aGGp4jUfCaZOfkAXQOSUd-aVvCHxxP3w8oogk130_provenance
;
np:hasPublicationInfo
dgn-np:NP325601.RAKnx0c5aGGp4jUfCaZOfkAXQOSUd-aVvCHxxP3w8oogk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP325601.RAKnx0c5aGGp4jUfCaZOfkAXQOSUd-aVvCHxxP3w8oogk130_assertion
a
np:Assertion
.
dgn-np:NP325601.RAKnx0c5aGGp4jUfCaZOfkAXQOSUd-aVvCHxxP3w8oogk130_provenance
a
np:Provenance
.
dgn-np:NP325601.RAKnx0c5aGGp4jUfCaZOfkAXQOSUd-aVvCHxxP3w8oogk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP325601.RAKnx0c5aGGp4jUfCaZOfkAXQOSUd-aVvCHxxP3w8oogk130_assertion
{
miriam-gene:10558
a
ncit:C16612
.
lld:C0020071
a
ncit:C7057
.
dgn-gda:DGNbb8f4da66c784581cfd4e10f50748a68
sio:SIO_000628
miriam-gene:10558
,
lld:C0020071
;
a
sio:SIO_001122
.
}
dgn-np:NP325601.RAKnx0c5aGGp4jUfCaZOfkAXQOSUd-aVvCHxxP3w8oogk130_provenance
{
dgn-np:NP325601.RAKnx0c5aGGp4jUfCaZOfkAXQOSUd-aVvCHxxP3w8oogk130_assertion
dcterms:description
"[To determine if the families in the present study that have SPTLC1 mutations are related to English families with HSN1 and, possibly, to the family studied by Hicks, we performed haplotype analysis of four Australian families of English extraction, four English families, and one Austrian family.]. 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:11479835
;
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:NP325601.RAKnx0c5aGGp4jUfCaZOfkAXQOSUd-aVvCHxxP3w8oogk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:13+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" .
}