@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:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_head { this: np:hasAssertion dgn-np:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_assertion; np:hasProvenance dgn-np:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_provenance; np:hasPublicationInfo dgn-np:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_publicationInfo; a np:Nanopublication . dgn-np:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_assertion a np:Assertion . dgn-np:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_provenance a np:Provenance . dgn-np:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_publicationInfo a np:PublicationInfo . } dgn-np:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_assertion { miriam-gene:4860 a ncit:C16612 . lld:C0268124 a ncit:C7057 . dgn-gda:DGNff17d9762ef4bdeb85fd7cfd73c83f0d sio:SIO_000628 miriam-gene:4860, lld:C0268124; a sio:SIO_001121 . } dgn-np:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_provenance { dgn-np:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_assertion dcterms:description "[ADA deficiency was pronounced in two siblings, and mild in the third and in the parents, and PNP activity was severely deficient in one sibling, and moderately deficient in the parents and other two siblings, who were all well.]. 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:3137899; 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:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_publicationInfo { this: dcterms:created "2014-10-02T12:41:11+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" . }