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Q52137131-0813C7F5-A6F7-4DF3-BA98-97FD7A8A9AAB
Q52137131-0813C7F5-A6F7-4DF3-BA98-97FD7A8A9AAB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52137131-0813C7F5-A6F7-4DF3-BA98-97FD7A8A9AAB
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.
P2860
Q52137131-0813C7F5-A6F7-4DF3-BA98-97FD7A8A9AAB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52137131-0813C7F5-A6F7-4DF3-BA98-97FD7A8A9AAB
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type
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Statement
wasDerivedFrom
5fcfc4b351a80c6641209b98c05c59ec82e5f6b0
P2860
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.