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1
Q35009121-2FCC05F9-EC14-4361-BB0C-F9741BE8136E
Q35009121-2FCC05F9-EC14-4361-BB0C-F9741BE8136E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35009121-2FCC05F9-EC14-4361-BB0C-F9741BE8136E
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.
P50
Q35009121-2FCC05F9-EC14-4361-BB0C-F9741BE8136E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35009121-2FCC05F9-EC14-4361-BB0C-F9741BE8136E
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
b76ca97737c0a07a621a56390a17622ec08398da
P1545
3
http://www.w3.org/2001/XMLSchema#string
P50
Charlotte L Alston