@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP255262.RAXGtpRKUxPJTjMWmhUnVXe4-Ztfi0pc5y4VAGkIVck5U
> .
@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:NP255262.RAXGtpRKUxPJTjMWmhUnVXe4-Ztfi0pc5y4VAGkIVck5U130_head
{
this:
np:hasAssertion
dgn-np:NP255262.RAXGtpRKUxPJTjMWmhUnVXe4-Ztfi0pc5y4VAGkIVck5U130_assertion
;
np:hasProvenance
dgn-np:NP255262.RAXGtpRKUxPJTjMWmhUnVXe4-Ztfi0pc5y4VAGkIVck5U130_provenance
;
np:hasPublicationInfo
dgn-np:NP255262.RAXGtpRKUxPJTjMWmhUnVXe4-Ztfi0pc5y4VAGkIVck5U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP255262.RAXGtpRKUxPJTjMWmhUnVXe4-Ztfi0pc5y4VAGkIVck5U130_assertion
a
np:Assertion
.
dgn-np:NP255262.RAXGtpRKUxPJTjMWmhUnVXe4-Ztfi0pc5y4VAGkIVck5U130_provenance
a
np:Provenance
.
dgn-np:NP255262.RAXGtpRKUxPJTjMWmhUnVXe4-Ztfi0pc5y4VAGkIVck5U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP255262.RAXGtpRKUxPJTjMWmhUnVXe4-Ztfi0pc5y4VAGkIVck5U130_assertion
{
miriam-gene:4359
a
ncit:C16612
.
lld:C0011195
a
ncit:C7057
.
dgn-gda:DGN72f441e243a30598371d38a73dace25e
sio:SIO_000628
miriam-gene:4359
,
lld:C0011195
;
a
sio:SIO_001121
.
}
dgn-np:NP255262.RAXGtpRKUxPJTjMWmhUnVXe4-Ztfi0pc5y4VAGkIVck5U130_provenance
{
dgn-np:NP255262.RAXGtpRKUxPJTjMWmhUnVXe4-Ztfi0pc5y4VAGkIVck5U130_assertion
dcterms:description
"[However, several dominant heterozygous mutations in the peripheral myelin protein 22 (PMP22) gene and dominant mutations in the peripheral myelin protein zero (MPZ) gene, both in the heterozygous and homozygous state, have been reported in patients with DSS.]. 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:10371530
;
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:NP255262.RAXGtpRKUxPJTjMWmhUnVXe4-Ztfi0pc5y4VAGkIVck5U130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:41+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" .
}