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Q42135472-2EFE8ED3-48ED-47C8-A4E2-E4FF4055AE19
Q42135472-2EFE8ED3-48ED-47C8-A4E2-E4FF4055AE19
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Statement
http://www.wikidata.org/entity/statement/Q42135472-2EFE8ED3-48ED-47C8-A4E2-E4FF4055AE19
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.
P2860
Q42135472-2EFE8ED3-48ED-47C8-A4E2-E4FF4055AE19
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42135472-2EFE8ED3-48ED-47C8-A4E2-E4FF4055AE19
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wasDerivedFrom
4bbfc468b6402616461e5b6145e81e92efadbf0c
P2860
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.