@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 dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP217155.RAZENcEXbH-klE6Jwj-St4ddYAofXz-9s7hraOOqQYYuM130_head { this: np:hasAssertion dgn-np:NP217155.RAZENcEXbH-klE6Jwj-St4ddYAofXz-9s7hraOOqQYYuM130_assertion; np:hasProvenance dgn-np:NP217155.RAZENcEXbH-klE6Jwj-St4ddYAofXz-9s7hraOOqQYYuM130_provenance; np:hasPublicationInfo dgn-np:NP217155.RAZENcEXbH-klE6Jwj-St4ddYAofXz-9s7hraOOqQYYuM130_publicationInfo; a np:Nanopublication . dgn-np:NP217155.RAZENcEXbH-klE6Jwj-St4ddYAofXz-9s7hraOOqQYYuM130_assertion a np:Assertion . dgn-np:NP217155.RAZENcEXbH-klE6Jwj-St4ddYAofXz-9s7hraOOqQYYuM130_provenance a np:Provenance . dgn-np:NP217155.RAZENcEXbH-klE6Jwj-St4ddYAofXz-9s7hraOOqQYYuM130_publicationInfo a np:PublicationInfo . } dgn-np:NP217155.RAZENcEXbH-klE6Jwj-St4ddYAofXz-9s7hraOOqQYYuM130_assertion { miriam-gene:488 a ncit:C16612 . lld:C0085106 a ncit:C7057 . dgn-gda:DGN816eeb0e06ed5919abe0d9ad5171636e sio:SIO_000628 miriam-gene:488, lld:C0085106; a sio:SIO_001121 . } dgn-np:NP217155.RAZENcEXbH-klE6Jwj-St4ddYAofXz-9s7hraOOqQYYuM130_provenance { dgn-np:NP217155.RAZENcEXbH-klE6Jwj-St4ddYAofXz-9s7hraOOqQYYuM130_assertion dcterms:description "[This study demonstrates that defects in ATP2C1 cause HHD and together with the recent identification of ATP2A2 as the defective gene in Darier's disease, provide further evidence of the critical role of Ca(2+)signaling in maintaining epidermal integrity.]. 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:10767338; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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 . } dgn-np:NP217155.RAZENcEXbH-klE6Jwj-St4ddYAofXz-9s7hraOOqQYYuM130_publicationInfo { this: dcterms:created "2014-10-02T12:34:00+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" . }