@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:NP635768.RA8upLqgYnQdwFf4b91ZbFBjasl-KpNKyx9hotULegdzk130_head { this: np:hasAssertion dgn-np:NP635768.RA8upLqgYnQdwFf4b91ZbFBjasl-KpNKyx9hotULegdzk130_assertion; np:hasProvenance dgn-np:NP635768.RA8upLqgYnQdwFf4b91ZbFBjasl-KpNKyx9hotULegdzk130_provenance; np:hasPublicationInfo dgn-np:NP635768.RA8upLqgYnQdwFf4b91ZbFBjasl-KpNKyx9hotULegdzk130_publicationInfo; a np:Nanopublication . dgn-np:NP635768.RA8upLqgYnQdwFf4b91ZbFBjasl-KpNKyx9hotULegdzk130_assertion a np:Assertion . dgn-np:NP635768.RA8upLqgYnQdwFf4b91ZbFBjasl-KpNKyx9hotULegdzk130_provenance a np:Provenance . dgn-np:NP635768.RA8upLqgYnQdwFf4b91ZbFBjasl-KpNKyx9hotULegdzk130_publicationInfo a np:PublicationInfo . } dgn-np:NP635768.RA8upLqgYnQdwFf4b91ZbFBjasl-KpNKyx9hotULegdzk130_assertion { miriam-gene:5317 a ncit:C16612 . lld:C0013575 a ncit:C7057 . dgn-gda:DGNce602154d2077463503910b0863ad420 sio:SIO_000628 miriam-gene:5317, lld:C0013575; a sio:SIO_001121 . } dgn-np:NP635768.RA8upLqgYnQdwFf4b91ZbFBjasl-KpNKyx9hotULegdzk130_provenance { dgn-np:NP635768.RA8upLqgYnQdwFf4b91ZbFBjasl-KpNKyx9hotULegdzk130_assertion dcterms:description "[In addition, a rare autosomal recessive skin fragility-ectodermal dysplasia syndrome has recently been recognised which results from total ablation of plakophilin 1, an intracellular desmosomal plaque protein that reinforces adhesion between the cytoskeleton and the cell membrane in terminally differentiating keratinocytes.]. 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:10379701; 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:NP635768.RA8upLqgYnQdwFf4b91ZbFBjasl-KpNKyx9hotULegdzk130_publicationInfo { this: dcterms:created "2014-10-02T12:38:23+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" . }