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Q35009121-179402D2-4A82-46AB-AB89-DF504E669768
Q35009121-179402D2-4A82-46AB-AB89-DF504E669768
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Statement
http://www.wikidata.org/entity/statement/Q35009121-179402D2-4A82-46AB-AB89-DF504E669768
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.
P2860
Q35009121-179402D2-4A82-46AB-AB89-DF504E669768
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35009121-179402D2-4A82-46AB-AB89-DF504E669768
rank
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type
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Statement
wasDerivedFrom
9bbc70f0bca08448a173c00edf7f333d6dfce116
P2860
Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase