@prefix dct: .
@prefix dgn-np: .
@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-gda: .
@prefix dgn-void: .
dgn-np:NP4002.RABpX22Y-co0zvI9fyD_TB78bZLOS649RAaH-Z7JCHOO4130_head {
this: np:hasAssertion dgn-np:NP4002.RABpX22Y-co0zvI9fyD_TB78bZLOS649RAaH-Z7JCHOO4130_assertion;
np:hasProvenance dgn-np:NP4002.RABpX22Y-co0zvI9fyD_TB78bZLOS649RAaH-Z7JCHOO4130_provenance;
np:hasPublicationInfo dgn-np:NP4002.RABpX22Y-co0zvI9fyD_TB78bZLOS649RAaH-Z7JCHOO4130_publicationInfo;
a np:Nanopublication .
dgn-np:NP4002.RABpX22Y-co0zvI9fyD_TB78bZLOS649RAaH-Z7JCHOO4130_assertion a np:Assertion .
dgn-np:NP4002.RABpX22Y-co0zvI9fyD_TB78bZLOS649RAaH-Z7JCHOO4130_provenance a np:Provenance .
dgn-np:NP4002.RABpX22Y-co0zvI9fyD_TB78bZLOS649RAaH-Z7JCHOO4130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP4002.RABpX22Y-co0zvI9fyD_TB78bZLOS649RAaH-Z7JCHOO4130_assertion {
miriam-gene:3757 a ncit:C16612 .
lld:C3150943 a ncit:C7057 .
dgn-gda:DGN445e11a300d4b61e7f9d8c232218ab3f sio:SIO_000628 miriam-gene:3757, lld:C3150943;
a sio:SIO_001122 .
}
dgn-np:NP4002.RABpX22Y-co0zvI9fyD_TB78bZLOS649RAaH-Z7JCHOO4130_provenance {
dgn-np:NP4002.RABpX22Y-co0zvI9fyD_TB78bZLOS649RAaH-Z7JCHOO4130_assertion dct:description
"[A cardiac channel gene screen for LQTS-causing mutations in KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 (LQT5), and KCNE2 (LQT6) was performed for 541 consecutive, unrelated patients (358 females, average age at diagnosis 24 +/- 16 years, average QTc 482 +/- 57 ms) referred to Mayo Clinic's Sudden Death Genomics Laboratory for LQTS genetic testing between August 1997 and July 2004.]. 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:15840476;
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:NP4002.RABpX22Y-co0zvI9fyD_TB78bZLOS649RAaH-Z7JCHOO4130_publicationInfo {
this: dct:created "2016-05-13T12:41:51+02:00"^^xsd:dateTime;
dct:rights ;
dct:rightsHolder dgn-void:IBIGroup;
dct:subject sio:SIO_000983;
prv:usedData dgn-void:disgenetv3.0rdf;
pav:authoredBy , ,
, , ;
pav:createdBy ;
pav:version "v4.0.0.0" .
dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}