dgn-np:NP681886.RAi8diKOmu2UyteogXs-1fyLNmPsRj2rtXuA57fXfKxeY130_provenance {
dgn-np:NP681886.RAi8diKOmu2UyteogXs-1fyLNmPsRj2rtXuA57fXfKxeY130_assertion dcterms:description "[The following clinical features have some specific values for predicting a gene defect: slowing of saccades in SCA2, ophthalmoplegia in SCA1, SCA2 and SCA3, pigmentary retinopathy in SCA7, spasticity in SCA3, dyskinesias associated with a mutation in the fibroblast growth factor 14 (FGF 14) gene, cognitive impairment/behavioral symptoms in SCA17 and DRPLA, seizures in SCA10, SCA17 and DRPLA, peripheral neuropathy in SCA1, SCA2, SCA3, SCA4, SCA8, SCA18 and SCA25.]. 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:15895552 ;
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 .
}