@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:NP528284.RAuuFPiQj9-8d7CxeEzSf2FTFw3eopRX5sxXMcr40aipQ130_head { this: np:hasAssertion dgn-np:NP528284.RAuuFPiQj9-8d7CxeEzSf2FTFw3eopRX5sxXMcr40aipQ130_assertion; np:hasProvenance dgn-np:NP528284.RAuuFPiQj9-8d7CxeEzSf2FTFw3eopRX5sxXMcr40aipQ130_provenance; np:hasPublicationInfo dgn-np:NP528284.RAuuFPiQj9-8d7CxeEzSf2FTFw3eopRX5sxXMcr40aipQ130_publicationInfo; a np:Nanopublication . dgn-np:NP528284.RAuuFPiQj9-8d7CxeEzSf2FTFw3eopRX5sxXMcr40aipQ130_assertion a np:Assertion . dgn-np:NP528284.RAuuFPiQj9-8d7CxeEzSf2FTFw3eopRX5sxXMcr40aipQ130_provenance a np:Provenance . dgn-np:NP528284.RAuuFPiQj9-8d7CxeEzSf2FTFw3eopRX5sxXMcr40aipQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP528284.RAuuFPiQj9-8d7CxeEzSf2FTFw3eopRX5sxXMcr40aipQ130_assertion { miriam-gene:11005 a ncit:C16612 . lld:C0265962 a ncit:C7057 . dgn-gda:DGN625d6c03195e1e4f945a30427b062ce8 sio:SIO_000628 miriam-gene:11005, lld:C0265962; a sio:SIO_001121 . } dgn-np:NP528284.RAuuFPiQj9-8d7CxeEzSf2FTFw3eopRX5sxXMcr40aipQ130_provenance { dgn-np:NP528284.RAuuFPiQj9-8d7CxeEzSf2FTFw3eopRX5sxXMcr40aipQ130_assertion dcterms:description "[The multidomain serine protease inhibitor lymphoepithelial Kazal-type related inhibitor (LEKTI) represents a key regulator of the proteolytic events occurring during epidermal barrier formation and hair development, as attested by the severe autosomal recessive ichthyosiform skin condition Netherton syndrome (NS) caused by mutations in its encoding gene, serine protease inhibitor Kazal-type 5 (SPINK5).]. 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:16374478; 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 . } dgn-np:NP528284.RAuuFPiQj9-8d7CxeEzSf2FTFw3eopRX5sxXMcr40aipQ130_publicationInfo { this: dcterms:created "2016-05-13T12:45:44+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms: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" . }