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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Am J Hum Genet 101:664-685 (2017)
DOI:10.1016/j.ajhg.2017.09.008

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GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

Ann Neurol 82:466-478 (2017)
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