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Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
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- Human Mutation, 2017, v. 38, n. 2, p. 216, doi. 10.1002/humu.23149
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Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2808, doi. 10.1002/ajmg.a.40503
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- Article