@prefix dct: .
@prefix ns1: .
@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: .
ns1:NP1413568.RAxnQIeo9ESanxfF7A2b-_xbF9syOcWBCnHO9hhj1S4xU130_head {
this: np:hasAssertion ns1:NP1413568.RAxnQIeo9ESanxfF7A2b-_xbF9syOcWBCnHO9hhj1S4xU130_assertion;
np:hasProvenance ns1:NP1413568.RAxnQIeo9ESanxfF7A2b-_xbF9syOcWBCnHO9hhj1S4xU130_provenance;
np:hasPublicationInfo ns1:NP1413568.RAxnQIeo9ESanxfF7A2b-_xbF9syOcWBCnHO9hhj1S4xU130_publicationInfo;
a np:Nanopublication .
ns1:NP1413568.RAxnQIeo9ESanxfF7A2b-_xbF9syOcWBCnHO9hhj1S4xU130_assertion a np:Assertion .
ns1:NP1413568.RAxnQIeo9ESanxfF7A2b-_xbF9syOcWBCnHO9hhj1S4xU130_provenance a np:Provenance .
ns1:NP1413568.RAxnQIeo9ESanxfF7A2b-_xbF9syOcWBCnHO9hhj1S4xU130_publicationInfo a np:PublicationInfo .
}
ns1:NP1413568.RAxnQIeo9ESanxfF7A2b-_xbF9syOcWBCnHO9hhj1S4xU130_assertion {
miriam-gene:2767 a ncit:C16612 .
lld:C0020437 a ncit:C7057 .
dgn-gda:DGN66f940e5806bdc0b6e47ce4f4232d343 sio:SIO_000628 miriam-gene:2767, lld:C0020437;
a sio:SIO_001121 .
}
ns1:NP1413568.RAxnQIeo9ESanxfF7A2b-_xbF9syOcWBCnHO9hhj1S4xU130_provenance {
ns1:NP1413568.RAxnQIeo9ESanxfF7A2b-_xbF9syOcWBCnHO9hhj1S4xU130_assertion dct:description
"[The human CaSR gene is located on chromosome 3q13.3-q21, and loss of function CaSR mutations have been reported in the hypercalcaemic disorders of familial benign (hypocalciuric) hypercalcaemia (FBH or FHH) and neonatal severe primary hyperparathyroidism (NSHPT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
wi:evidence dgn-void:source_evidence_literature;
sio:SIO_000772 miriam-pubmed:9920407;
prov:wasDerivedFrom dgn-void:befree-2016;
prov:wasGeneratedBy eco:ECO_0000203 .
dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date .
dgn-void:source_evidence_literature a eco:ECO_0000212;
rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en;
rdfs:label "DisGeNET evidence - LITERATURE"@en .
}
ns1:NP1413568.RAxnQIeo9ESanxfF7A2b-_xbF9syOcWBCnHO9hhj1S4xU130_publicationInfo {
this: dct:created "2016-05-13T12:52:27+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" .
}