@prefix orcid: .
@prefix dc: .
@prefix this: .
@prefix rdfs: .
@prefix xsd: .
@prefix sio: .
@prefix ncit: .
@prefix lld: .
@prefix miriam-gene: .
@prefix miriam-pubmed: .
@prefix eco: .
@prefix wi: .
@prefix prov: .
@prefix pav: .
@prefix prv: .
@prefix np: .
@prefix dgn-np: .
@prefix dgn-gda: .
@prefix dgn-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 ;
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" .
}