@prefix orcid: <
http://orcid.org/
> .
@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP9293.RAn1_DgJLWyuJu9k2_d-_3YaLeg7fb8n8rOvIvdmgQQ_M
> .
@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 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:NP9293.RAn1_DgJLWyuJu9k2_d-_3YaLeg7fb8n8rOvIvdmgQQ_M130_head
{
this:
np:hasAssertion
dgn-np:NP9293.RAn1_DgJLWyuJu9k2_d-_3YaLeg7fb8n8rOvIvdmgQQ_M130_assertion
;
np:hasProvenance
dgn-np:NP9293.RAn1_DgJLWyuJu9k2_d-_3YaLeg7fb8n8rOvIvdmgQQ_M130_provenance
;
np:hasPublicationInfo
dgn-np:NP9293.RAn1_DgJLWyuJu9k2_d-_3YaLeg7fb8n8rOvIvdmgQQ_M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP9293.RAn1_DgJLWyuJu9k2_d-_3YaLeg7fb8n8rOvIvdmgQQ_M130_assertion
a
np:Assertion
.
dgn-np:NP9293.RAn1_DgJLWyuJu9k2_d-_3YaLeg7fb8n8rOvIvdmgQQ_M130_provenance
a
np:Provenance
.
dgn-np:NP9293.RAn1_DgJLWyuJu9k2_d-_3YaLeg7fb8n8rOvIvdmgQQ_M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP9293.RAn1_DgJLWyuJu9k2_d-_3YaLeg7fb8n8rOvIvdmgQQ_M130_assertion
{
miriam-gene:5354
a
ncit:C16612
.
lld:C0205711
a
ncit:C7057
.
dgn-gda:DGN4cbcb75b163891a75eac823e747b7608
sio:SIO_000628
miriam-gene:5354
,
lld:C0205711
;
a
sio:SIO_001122
.
}
dgn-np:NP9293.RAn1_DgJLWyuJu9k2_d-_3YaLeg7fb8n8rOvIvdmgQQ_M130_provenance
{
dgn-np:NP9293.RAn1_DgJLWyuJu9k2_d-_3YaLeg7fb8n8rOvIvdmgQQ_M130_assertion
dc:description
"[Since linkage analysis has shown homogeneity at the PLP locus in patients with PMD, our findings suggest that there may be genetic abnormalities other than exonic mutations that cause milder forms of PMD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:9008538
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP9293.RAn1_DgJLWyuJu9k2_d-_3YaLeg7fb8n8rOvIvdmgQQ_M130_publicationInfo
{
this:
dc:created
"2016-05-13T12:41:53+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}