About: http://webisa.webdatacommons.org/405140436

Property	Value
http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://www.w3.org/ns/prov#Entity
http://www.w3.org/ns/prov#value	Epilepsy is a late manifestation and seizures may be life-threatening.IOSCA is caused by mutations in the C10orf2 gene (10q24) encoding the mitochondrial helicase Twinkle.
http://www.w3.org/ns/prov#wasQuotedFrom	orpha.net