@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP609764.RAk2JinZQIuZJO4IdLyDkc8dEXKyxmhjVQQOOzPvbOWIY
> .
@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:NP609764.RAk2JinZQIuZJO4IdLyDkc8dEXKyxmhjVQQOOzPvbOWIY130_head
{
this:
np:hasAssertion
dgn-np:NP609764.RAk2JinZQIuZJO4IdLyDkc8dEXKyxmhjVQQOOzPvbOWIY130_assertion
;
np:hasProvenance
dgn-np:NP609764.RAk2JinZQIuZJO4IdLyDkc8dEXKyxmhjVQQOOzPvbOWIY130_provenance
;
np:hasPublicationInfo
dgn-np:NP609764.RAk2JinZQIuZJO4IdLyDkc8dEXKyxmhjVQQOOzPvbOWIY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP609764.RAk2JinZQIuZJO4IdLyDkc8dEXKyxmhjVQQOOzPvbOWIY130_assertion
a
np:Assertion
.
dgn-np:NP609764.RAk2JinZQIuZJO4IdLyDkc8dEXKyxmhjVQQOOzPvbOWIY130_provenance
a
np:Provenance
.
dgn-np:NP609764.RAk2JinZQIuZJO4IdLyDkc8dEXKyxmhjVQQOOzPvbOWIY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP609764.RAk2JinZQIuZJO4IdLyDkc8dEXKyxmhjVQQOOzPvbOWIY130_assertion
{
miriam-gene:4359
a
ncit:C16612
.
lld:C0270911
a
ncit:C7057
.
dgn-gda:DGNbbdf6925dd7dd0edc0b33dd0a2563e81
sio:SIO_000628
miriam-gene:4359
,
lld:C0270911
;
a
sio:SIO_001121
.
}
dgn-np:NP609764.RAk2JinZQIuZJO4IdLyDkc8dEXKyxmhjVQQOOzPvbOWIY130_provenance
{
dgn-np:NP609764.RAk2JinZQIuZJO4IdLyDkc8dEXKyxmhjVQQOOzPvbOWIY130_assertion
dcterms:description
"[While mutation in the gene encoding the major myelin protein, P0 has been associated with CMT1B, CMT1A and HNPP have been shown to be associated with reciprocal recombination events leading either to a large submicroscopic duplication in CMT1A, or the corresponding DNA deletion in HNPP.]. 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:7515304
;
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:NP609764.RAk2JinZQIuZJO4IdLyDkc8dEXKyxmhjVQQOOzPvbOWIY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:06+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" .
}