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6. Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy. Salinas V; Vega P; Piccirilli MV; Chicco C; Ciraolo C; Christiansen S; Consalvo D; Perez-Maturo J; Medina N; González-Morón D; Novaro V; Perrone C; García MDC; Agosta G; Silva W; Kauffman M Eur J Med Genet; 2019 Nov; 62(11):103571. PubMed ID: 30414531 [TBL] [Abstract][Full Text] [Related]
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