@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:NP311529.RAwez3SfRlIt56VM_3c_yfVswehM5g5_zSKHyzLJy8oDs130_head { this: np:hasAssertion dgn-np:NP311529.RAwez3SfRlIt56VM_3c_yfVswehM5g5_zSKHyzLJy8oDs130_assertion; np:hasProvenance dgn-np:NP311529.RAwez3SfRlIt56VM_3c_yfVswehM5g5_zSKHyzLJy8oDs130_provenance; np:hasPublicationInfo dgn-np:NP311529.RAwez3SfRlIt56VM_3c_yfVswehM5g5_zSKHyzLJy8oDs130_publicationInfo; a np:Nanopublication . dgn-np:NP311529.RAwez3SfRlIt56VM_3c_yfVswehM5g5_zSKHyzLJy8oDs130_assertion a np:Assertion . dgn-np:NP311529.RAwez3SfRlIt56VM_3c_yfVswehM5g5_zSKHyzLJy8oDs130_provenance a np:Provenance . dgn-np:NP311529.RAwez3SfRlIt56VM_3c_yfVswehM5g5_zSKHyzLJy8oDs130_publicationInfo a np:PublicationInfo . } dgn-np:NP311529.RAwez3SfRlIt56VM_3c_yfVswehM5g5_zSKHyzLJy8oDs130_assertion { miriam-gene:1080 a ncit:C16612 . lld:C0524620 a ncit:C7057 . dgn-gda:DGNd04348e0e862eabef9365a20e2b919a1 sio:SIO_000628 miriam-gene:1080, lld:C0524620; a sio:SIO_001122 . } dgn-np:NP311529.RAwez3SfRlIt56VM_3c_yfVswehM5g5_zSKHyzLJy8oDs130_provenance { dgn-np:NP311529.RAwez3SfRlIt56VM_3c_yfVswehM5g5_zSKHyzLJy8oDs130_assertion dcterms:description "[Ten novel variants (c.2554_2555insT, p.F1107L, c.-152G>C, p.L323P, p.L32M, c.2883_2886dupGTCA, c.2349_2350insT, p.K114del, c.-602A>T, and c.2822delT) were associated with a CF phenotype (42% of participants were diagnosed at 4 to 25 months of age), whereas 26 were associated with CFTR-related metabolic syndrome to date.]. 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:23810505; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP311529.RAwez3SfRlIt56VM_3c_yfVswehM5g5_zSKHyzLJy8oDs130_publicationInfo { this: dcterms:created "2015-08-25T14:40:39+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }