@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:NP622431.RAJHwA-56DdJja7Tc1wXkaGh7SG1AVzfExobHtyK86tWI130_head { this: np:hasAssertion dgn-np:NP622431.RAJHwA-56DdJja7Tc1wXkaGh7SG1AVzfExobHtyK86tWI130_assertion; np:hasProvenance dgn-np:NP622431.RAJHwA-56DdJja7Tc1wXkaGh7SG1AVzfExobHtyK86tWI130_provenance; np:hasPublicationInfo dgn-np:NP622431.RAJHwA-56DdJja7Tc1wXkaGh7SG1AVzfExobHtyK86tWI130_publicationInfo; a np:Nanopublication . dgn-np:NP622431.RAJHwA-56DdJja7Tc1wXkaGh7SG1AVzfExobHtyK86tWI130_assertion a np:Assertion . dgn-np:NP622431.RAJHwA-56DdJja7Tc1wXkaGh7SG1AVzfExobHtyK86tWI130_provenance a np:Provenance . dgn-np:NP622431.RAJHwA-56DdJja7Tc1wXkaGh7SG1AVzfExobHtyK86tWI130_publicationInfo a np:PublicationInfo . } dgn-np:NP622431.RAJHwA-56DdJja7Tc1wXkaGh7SG1AVzfExobHtyK86tWI130_assertion { miriam-gene:1135 a ncit:C16612 . lld:C3696898 a ncit:C7057 . dgn-gda:DGN7870df46b11b3c80ee1b7385570c10a2 sio:SIO_000628 miriam-gene:1135, lld:C3696898; a sio:SIO_001121 . } dgn-np:NP622431.RAJHwA-56DdJja7Tc1wXkaGh7SG1AVzfExobHtyK86tWI130_provenance { dgn-np:NP622431.RAJHwA-56DdJja7Tc1wXkaGh7SG1AVzfExobHtyK86tWI130_assertion dcterms:description "[Although over hundred families are on record, only a minority of them have been linked to mutations in the genes coding for the alpha4, alpha2 and beta2 (CHRNA4, CHRNA2, and CHRNB2) subunits of the nAChRs, indicating that ADNFLE is genetically heterogeneous despite a relatively homogeneous clinical picture.]. 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:17662253; 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:NP622431.RAJHwA-56DdJja7Tc1wXkaGh7SG1AVzfExobHtyK86tWI130_publicationInfo { this: dcterms:created "2016-05-13T12:46:27+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" . }