@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:NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_head {
this: np:hasAssertion dgn-np:NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_assertion;
np:hasProvenance dgn-np:NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_provenance;
np:hasPublicationInfo dgn-np:NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_publicationInfo;
a np:Nanopublication .
dgn-np:NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_assertion a np:Assertion .
dgn-np:NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_provenance a np:Provenance .
dgn-np:NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_assertion {
miriam-gene:410 a ncit:C16612 .
lld:C0023522 a ncit:C7057 .
dgn-gda:DGNaadf4d233b224951d3988741b01a9287 sio:SIO_000628 miriam-gene:410, lld:C0023522;
a sio:SIO_001122 .
}
dgn-np:NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_provenance {
dgn-np:NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_assertion dc:description
"[Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles.]. 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:20339381;
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:NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_publicationInfo {
this: dc:created "2014-10-02T12:31:58+02:00"^^xsd:dateTime;
dc:rights ;
dc:rightsHolder dgn-void:IBIGroup;
dc: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" .
}