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Q58803266-C91BCCCD-E6C0-4800-A7C0-882116DFAFF6
Q58803266-C91BCCCD-E6C0-4800-A7C0-882116DFAFF6
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58803266-C91BCCCD-E6C0-4800-A7C0-882116DFAFF6
De novo mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
P2860
Q58803266-C91BCCCD-E6C0-4800-A7C0-882116DFAFF6
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58803266-C91BCCCD-E6C0-4800-A7C0-882116DFAFF6
rank
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type
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Statement
wasDerivedFrom
32702f29f968a06fb31034e0330c650f6e31dec6
P2860
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.