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Q35009121-B33A0218-E013-406A-A101-BEE92A0C30B2
Q35009121-B33A0218-E013-406A-A101-BEE92A0C30B2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35009121-B33A0218-E013-406A-A101-BEE92A0C30B2
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.
P2888
Q35009121-B33A0218-E013-406A-A101-BEE92A0C30B2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35009121-B33A0218-E013-406A-A101-BEE92A0C30B2
rank
NormalRank
type
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Statement
P2888
ejhg.2014.214