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Q30600054-76CE77E6-0E99-48F8-A973-3DF389DE9638
Q30600054-76CE77E6-0E99-48F8-A973-3DF389DE9638
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30600054-76CE77E6-0E99-48F8-A973-3DF389DE9638
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.
P2860
Q30600054-76CE77E6-0E99-48F8-A973-3DF389DE9638
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30600054-76CE77E6-0E99-48F8-A973-3DF389DE9638
rank
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type
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wasDerivedFrom
b077d91b89ba7842665ecab3274b0fae1e8c2582
P2860
Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.