Rare copy number variants in 517 patients with epilepsy.
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资源简介:
HS, hotspot region; Del, deletion; Dup, duplication; Inh, inherited; M, maternal; P, paternal;∧affected; -, parents unavailable; JME, juvenile myoclonic epilepsy; IAE, idiopathic absence epilepsy; CAE childhood absence epilepsy; IGE, idiopathic generalized epilepsy; GTCS, generalized tonic clonic seizures only; ID, intellectual disability; BECTS, benign epilepsy with centrotemporal spikes; IC, infantile convulsions; SIGEI, several idiopathic generalized epilepsy of infancy; NC, neonatal convulsions;*two CNVs detected in same individual;**15q13 deletions previously detected by MLPA [60].
创建时间:
2015-12-02



