About: http://webisa.webdatacommons.org/70273390

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	For many of the studies examined, especially case series, the exact genetic variant is unknown but loss of gene function (regardless of the reason) was confirmed by other means (e.g. RNA, protein or other tests).
http://www.w3.org/ns/prov#wasQuotedFrom	nih.gov