@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:NP596637.RAFlHqPzP0c7UKy-kx9Dz0eQDnoHX2Y0SuHMP3aj-Mqzc130_head { this: np:hasAssertion dgn-np:NP596637.RAFlHqPzP0c7UKy-kx9Dz0eQDnoHX2Y0SuHMP3aj-Mqzc130_assertion; np:hasProvenance dgn-np:NP596637.RAFlHqPzP0c7UKy-kx9Dz0eQDnoHX2Y0SuHMP3aj-Mqzc130_provenance; np:hasPublicationInfo dgn-np:NP596637.RAFlHqPzP0c7UKy-kx9Dz0eQDnoHX2Y0SuHMP3aj-Mqzc130_publicationInfo; a np:Nanopublication . dgn-np:NP596637.RAFlHqPzP0c7UKy-kx9Dz0eQDnoHX2Y0SuHMP3aj-Mqzc130_assertion a np:Assertion . dgn-np:NP596637.RAFlHqPzP0c7UKy-kx9Dz0eQDnoHX2Y0SuHMP3aj-Mqzc130_provenance a np:Provenance . dgn-np:NP596637.RAFlHqPzP0c7UKy-kx9Dz0eQDnoHX2Y0SuHMP3aj-Mqzc130_publicationInfo a np:PublicationInfo . } dgn-np:NP596637.RAFlHqPzP0c7UKy-kx9Dz0eQDnoHX2Y0SuHMP3aj-Mqzc130_assertion { miriam-gene:2312 a ncit:C16612 . lld:C0020758 a ncit:C7057 . dgn-gda:DGN62168f5dca9228c35a61d5b8e3a14e16 sio:SIO_000628 miriam-gene:2312, lld:C0020758; a sio:SIO_001121 . } dgn-np:NP596637.RAFlHqPzP0c7UKy-kx9Dz0eQDnoHX2Y0SuHMP3aj-Mqzc130_provenance { dgn-np:NP596637.RAFlHqPzP0c7UKy-kx9Dz0eQDnoHX2Y0SuHMP3aj-Mqzc130_assertion dcterms:description "[This is the second reported case of the modifying effects of FLG null alleles on XLI and strengthens the hypothesis that filaggrin defects can synergize with STS deficiency to exacerbate the ichthyosis phenotype.]. 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:21945601; 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:NP596637.RAFlHqPzP0c7UKy-kx9Dz0eQDnoHX2Y0SuHMP3aj-Mqzc130_publicationInfo { this: dcterms:created "2014-10-02T12:37:58+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" . }