@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1326731.RAgGdKmrtilT0385nBPw-D-FGlAvg0cNiipyI8EuZUXhM
> .
@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:NP1326731.RAgGdKmrtilT0385nBPw-D-FGlAvg0cNiipyI8EuZUXhM130_head
{
this:
np:hasAssertion
dgn-np:NP1326731.RAgGdKmrtilT0385nBPw-D-FGlAvg0cNiipyI8EuZUXhM130_assertion
;
np:hasProvenance
dgn-np:NP1326731.RAgGdKmrtilT0385nBPw-D-FGlAvg0cNiipyI8EuZUXhM130_provenance
;
np:hasPublicationInfo
dgn-np:NP1326731.RAgGdKmrtilT0385nBPw-D-FGlAvg0cNiipyI8EuZUXhM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1326731.RAgGdKmrtilT0385nBPw-D-FGlAvg0cNiipyI8EuZUXhM130_assertion
a
np:Assertion
.
dgn-np:NP1326731.RAgGdKmrtilT0385nBPw-D-FGlAvg0cNiipyI8EuZUXhM130_provenance
a
np:Provenance
.
dgn-np:NP1326731.RAgGdKmrtilT0385nBPw-D-FGlAvg0cNiipyI8EuZUXhM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1326731.RAgGdKmrtilT0385nBPw-D-FGlAvg0cNiipyI8EuZUXhM130_assertion
{
miriam-gene:57026
a
ncit:C16612
.
lld:C0205711
a
ncit:C7057
.
dgn-gda:DGNdef1841dedf994c03c797bc3ac13095d
sio:SIO_000628
miriam-gene:57026
,
lld:C0205711
;
a
sio:SIO_001121
.
}
dgn-np:NP1326731.RAgGdKmrtilT0385nBPw-D-FGlAvg0cNiipyI8EuZUXhM130_provenance
{
dgn-np:NP1326731.RAgGdKmrtilT0385nBPw-D-FGlAvg0cNiipyI8EuZUXhM130_assertion
dcterms:description
"[In an attempt to identify molecular defects of this genomic region that are responsible for PMD, these results meant that RFLP analysis could be used to improve genetic counseling for the numerous affected families in which a PLP exon mutation could not be demonstrated.]. 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:7915877
;
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:NP1326731.RAgGdKmrtilT0385nBPw-D-FGlAvg0cNiipyI8EuZUXhM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:47+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" .
}