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Q47654145-CF44DB47-BAC3-42B7-9ADC-093E7944E721
Q47654145-CF44DB47-BAC3-42B7-9ADC-093E7944E721
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47654145-CF44DB47-BAC3-42B7-9ADC-093E7944E721
Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA.
P2860
Q47654145-CF44DB47-BAC3-42B7-9ADC-093E7944E721
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47654145-CF44DB47-BAC3-42B7-9ADC-093E7944E721
rank
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wasDerivedFrom
428853ec4db128eac44bb3aad9a4d9b7ed69192a
P2860
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.