@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:NP304800.RAaqW9qz5B_P9ug54osCGSR4Ujs6Gt7nS5Bj2WBQ-focQ130_head { this: np:hasAssertion dgn-np:NP304800.RAaqW9qz5B_P9ug54osCGSR4Ujs6Gt7nS5Bj2WBQ-focQ130_assertion; np:hasProvenance dgn-np:NP304800.RAaqW9qz5B_P9ug54osCGSR4Ujs6Gt7nS5Bj2WBQ-focQ130_provenance; np:hasPublicationInfo dgn-np:NP304800.RAaqW9qz5B_P9ug54osCGSR4Ujs6Gt7nS5Bj2WBQ-focQ130_publicationInfo; a np:Nanopublication . dgn-np:NP304800.RAaqW9qz5B_P9ug54osCGSR4Ujs6Gt7nS5Bj2WBQ-focQ130_assertion a np:Assertion . dgn-np:NP304800.RAaqW9qz5B_P9ug54osCGSR4Ujs6Gt7nS5Bj2WBQ-focQ130_provenance a np:Provenance . dgn-np:NP304800.RAaqW9qz5B_P9ug54osCGSR4Ujs6Gt7nS5Bj2WBQ-focQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP304800.RAaqW9qz5B_P9ug54osCGSR4Ujs6Gt7nS5Bj2WBQ-focQ130_assertion { miriam-gene:4014 a ncit:C16612 . lld:C1832097 a ncit:C7057 . dgn-gda:DGNe3c15c98c3372596d5263b5cbde1f385 sio:SIO_000628 miriam-gene:4014, lld:C1832097; a sio:SIO_001121 . } dgn-np:NP304800.RAaqW9qz5B_P9ug54osCGSR4Ujs6Gt7nS5Bj2WBQ-focQ130_provenance { dgn-np:NP304800.RAaqW9qz5B_P9ug54osCGSR4Ujs6Gt7nS5Bj2WBQ-focQ130_assertion dcterms:description "[These data confirm the presence of non-Vohwinkel's syndrome mutilating palmoplantar keratoderma phenotype with abnormal loricrin cross-linking at the final stage of cornified cell envelope formation, which is caused by mutations outside the epidermal differentiation complex region.]. 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:9665400; 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:NP304800.RAaqW9qz5B_P9ug54osCGSR4Ujs6Gt7nS5Bj2WBQ-focQ130_publicationInfo { this: dcterms:created "2014-10-02T12:34:55+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" . }