@prefix dcterms: .
@prefix orcid: .
@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:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_head {
this: np:hasAssertion dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_assertion;
np:hasProvenance dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_provenance;
np:hasPublicationInfo dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_publicationInfo;
a np:Nanopublication .
dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_assertion a np:Assertion .
dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_provenance a np:Provenance .
dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_assertion {
miriam-gene:4221 a ncit:C16612 .
lld:C0025267 a ncit:C7057 .
dgn-gda:DGNab2f66b95b1319ca037748d14b64e665 sio:SIO_000628 miriam-gene:4221, lld:C0025267;
a sio:SIO_001122 .
}
dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_provenance {
dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_assertion dcterms:description
"[For facilitated genotypic analysis of multiple endocrine neoplasia type 1 (MEN1), a familial syndrome associated with tumors of the parathyroid and neuroendocrine tissues, we developed two screening methods, heteroduplex mutation assay (HMA) and mutation detection gel analysis (MDGA), both based on electrophoretic discrimination of polymerase chain reaction (PCR) products, to detect the mutations.]. 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:12652570;
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:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_publicationInfo {
this: dcterms:created "2016-05-13T12:41:51+02:00"^^xsd:dateTime;
dcterms:rights ;
dcterms:rightsHolder dgn-void:IBIGroup;
dcterms: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" .
}