@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:NP1330075.RAqrWELpkm1LNVB674cTfnv3tParKOH5MMCMeyU4d3EqI130_head { this: np:hasAssertion dgn-np:NP1330075.RAqrWELpkm1LNVB674cTfnv3tParKOH5MMCMeyU4d3EqI130_assertion; np:hasProvenance dgn-np:NP1330075.RAqrWELpkm1LNVB674cTfnv3tParKOH5MMCMeyU4d3EqI130_provenance; np:hasPublicationInfo dgn-np:NP1330075.RAqrWELpkm1LNVB674cTfnv3tParKOH5MMCMeyU4d3EqI130_publicationInfo; a np:Nanopublication . dgn-np:NP1330075.RAqrWELpkm1LNVB674cTfnv3tParKOH5MMCMeyU4d3EqI130_assertion a np:Assertion . dgn-np:NP1330075.RAqrWELpkm1LNVB674cTfnv3tParKOH5MMCMeyU4d3EqI130_provenance a np:Provenance . dgn-np:NP1330075.RAqrWELpkm1LNVB674cTfnv3tParKOH5MMCMeyU4d3EqI130_publicationInfo a np:PublicationInfo . } dgn-np:NP1330075.RAqrWELpkm1LNVB674cTfnv3tParKOH5MMCMeyU4d3EqI130_assertion { miriam-gene:6439 a ncit:C16612 . lld:C1145670 a ncit:C7057 . dgn-gda:DGN1da191b897e1947799d21c1ba631be11 sio:SIO_000628 miriam-gene:6439, lld:C1145670; a sio:SIO_001122 . } dgn-np:NP1330075.RAqrWELpkm1LNVB674cTfnv3tParKOH5MMCMeyU4d3EqI130_provenance { dgn-np:NP1330075.RAqrWELpkm1LNVB674cTfnv3tParKOH5MMCMeyU4d3EqI130_assertion dcterms:description "[Congenital alveolar proteinosis (CAP) is an often fatal cause of respiratory failure in term newborn infants, which has been associated with a genetic deficiency of surfactant protein B (SP-B) as a result of a frameshift mutation (121ins2) in a family with three affected siblings.]. 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:8021783; 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:NP1330075.RAqrWELpkm1LNVB674cTfnv3tParKOH5MMCMeyU4d3EqI130_publicationInfo { this: dcterms:created "2016-05-13T12:51:49+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" . }