EF-hand domain-containing protein 1
Definition:
References:
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[1]. Toshimitsu Suzuki, et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet. 2004 Aug;36(8):842-9. [Content Brief]
[2]. Praveen K Raju, et al. Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy. Hum Mutat. 2017 Jul;38(7):816-826. [Content Brief]
[3]. Laurence de Nijs, et al. EFHC1 interacts with microtubules to regulate cell division and cortical development. Nat Neurosci. 2009 Oct;12(10):1266-74. [Content Brief]
[4]. Laurence de Nijs, et al. Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development. Hum Mol Genet. 2012 Dec 1;21(23):5106-17. [Content Brief]
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