@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:NP948627.RAw6zhjTAIZ0qYEZ9ybcU8aw2GK2YZ10JN0qAF8LYH_MM130_head { this: np:hasAssertion dgn-np:NP948627.RAw6zhjTAIZ0qYEZ9ybcU8aw2GK2YZ10JN0qAF8LYH_MM130_assertion; np:hasProvenance dgn-np:NP948627.RAw6zhjTAIZ0qYEZ9ybcU8aw2GK2YZ10JN0qAF8LYH_MM130_provenance; np:hasPublicationInfo dgn-np:NP948627.RAw6zhjTAIZ0qYEZ9ybcU8aw2GK2YZ10JN0qAF8LYH_MM130_publicationInfo; a np:Nanopublication . dgn-np:NP948627.RAw6zhjTAIZ0qYEZ9ybcU8aw2GK2YZ10JN0qAF8LYH_MM130_assertion a np:Assertion . dgn-np:NP948627.RAw6zhjTAIZ0qYEZ9ybcU8aw2GK2YZ10JN0qAF8LYH_MM130_provenance a np:Provenance . dgn-np:NP948627.RAw6zhjTAIZ0qYEZ9ybcU8aw2GK2YZ10JN0qAF8LYH_MM130_publicationInfo a np:PublicationInfo . } dgn-np:NP948627.RAw6zhjTAIZ0qYEZ9ybcU8aw2GK2YZ10JN0qAF8LYH_MM130_assertion { miriam-gene:80308 a ncit:C16612 . lld:C0333463 a ncit:C7057 . dgn-gda:DGN2bb8bffd239bed530f7a95b0a4969d1e sio:SIO_000628 miriam-gene:80308, lld:C0333463; a sio:SIO_001121 . } dgn-np:NP948627.RAw6zhjTAIZ0qYEZ9ybcU8aw2GK2YZ10JN0qAF8LYH_MM130_provenance { dgn-np:NP948627.RAw6zhjTAIZ0qYEZ9ybcU8aw2GK2YZ10JN0qAF8LYH_MM130_assertion dcterms:description "[Comparisons also suggested several ostensible phenotypic variants in 14qFAD: (1) In two 14q-linked kindreds (SNW/FAD3, FAD1), affected individuals in some instances were noted to survive to age 70 or beyond and the mean age at onset (> 49 years) in these two kindreds was somewhat higher than in their five 14qFAD counterparts (< 48 years in each); (2) in the SNW/FAD3 kindred, seizures and myoclonus were absent in all 10 subjects examined; and (3) cerebellar amyloid plaques were variably present within and among several 14qFAD kindreds.]. 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:8080245; 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:NP948627.RAw6zhjTAIZ0qYEZ9ybcU8aw2GK2YZ10JN0qAF8LYH_MM130_publicationInfo { this: dcterms:created "2015-08-25T14:47:19+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" . }