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Q52137131-35AD9284-5BC3-4E84-80DB-6CF1A26694DB
Q52137131-35AD9284-5BC3-4E84-80DB-6CF1A26694DB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52137131-35AD9284-5BC3-4E84-80DB-6CF1A26694DB
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.
P2860
Q52137131-35AD9284-5BC3-4E84-80DB-6CF1A26694DB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52137131-35AD9284-5BC3-4E84-80DB-6CF1A26694DB
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Statement
wasDerivedFrom
5fcfc4b351a80c6641209b98c05c59ec82e5f6b0
P2860
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease