@prefix dcterms: .
@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:NP5647.RAtwYjfV5JKT4FRwn8nuEKBEMVTujbe1DJuyYk_QbZHok130_head {
this: np:hasAssertion dgn-np:NP5647.RAtwYjfV5JKT4FRwn8nuEKBEMVTujbe1DJuyYk_QbZHok130_assertion;
np:hasProvenance dgn-np:NP5647.RAtwYjfV5JKT4FRwn8nuEKBEMVTujbe1DJuyYk_QbZHok130_provenance;
np:hasPublicationInfo dgn-np:NP5647.RAtwYjfV5JKT4FRwn8nuEKBEMVTujbe1DJuyYk_QbZHok130_publicationInfo;
a np:Nanopublication .
dgn-np:NP5647.RAtwYjfV5JKT4FRwn8nuEKBEMVTujbe1DJuyYk_QbZHok130_assertion a np:Assertion .
dgn-np:NP5647.RAtwYjfV5JKT4FRwn8nuEKBEMVTujbe1DJuyYk_QbZHok130_provenance a np:Provenance .
dgn-np:NP5647.RAtwYjfV5JKT4FRwn8nuEKBEMVTujbe1DJuyYk_QbZHok130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP5647.RAtwYjfV5JKT4FRwn8nuEKBEMVTujbe1DJuyYk_QbZHok130_assertion {
miriam-gene:6253 a ncit:C16612 .
lld:C1858106 a ncit:C7057 .
dgn-gda:DGNa1085858c93d13dd9d591b11ed50ce70 sio:SIO_000628 miriam-gene:6253, lld:C1858106;
a sio:SIO_001122 .
}
dgn-np:NP5647.RAtwYjfV5JKT4FRwn8nuEKBEMVTujbe1DJuyYk_QbZHok130_provenance {
dgn-np:NP5647.RAtwYjfV5JKT4FRwn8nuEKBEMVTujbe1DJuyYk_QbZHok130_assertion dcterms:description
"[Applying Sanger and exome sequencing, we have now identified 3 mutations in reticulon 2 (RTN2), which encodes a member of the reticulon family of prototypic ER-shaping proteins, in families with spastic paraplegia 12 (SPG12).]. 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:22232211;
prov:wasDerivedFrom dgn-void:uniprot-20130724;
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-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}
dgn-np:NP5647.RAtwYjfV5JKT4FRwn8nuEKBEMVTujbe1DJuyYk_QbZHok130_publicationInfo {
this: dcterms:created "2014-10-02T12:32:00+02:00"^^xsd:dateTime;
dcterms:rights ;
dcterms:rightsHolder dgn-void:IBIGroup;
dcterms:subject sio:SIO_000983;
prv:usedData dgn-void:disgenetrdf;
pav:authoredBy , ,
, , ;
pav:createdBy ;
pav:version "v2.1.0.0" .
dgn-void:disgenetrdf pav:version "v2.1.0" .
}