@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:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_head { this: np:hasAssertion dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_assertion; np:hasProvenance dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_provenance; np:hasPublicationInfo dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_publicationInfo; a np:Nanopublication . dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_assertion a np:Assertion . dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_provenance a np:Provenance . dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_assertion { miriam-gene:8929 a ncit:C16612 . lld:C1275808 a ncit:C7057 . dgn-gda:DGN24028ab66b10c81f03c7c68cef982918 sio:SIO_000628 miriam-gene:8929, lld:C1275808; a sio:SIO_001121 . } dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_provenance { dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_assertion dcterms:description "[Because incomplete penetrance can occur in families of CCHS probands with PHOX2B mutations, genetic screening of appropriate family members is indicated to evaluate reproductive risk and because asymptomatic mutation carriers may be at risk for developing alveolar hypoventilation.]. 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:16888290; 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:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_publicationInfo { this: dcterms:created "2016-05-13T12:46:00+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" . }