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Identification of a somatic mutation in the RHEB gene throu..:
Salinas, Valeria
;
Vega, Patricia
;
Piccirilli, María Victoria
...
European Journal of Medical Genetics. 62 (2019) 11 - p. 103571 , 2019
Link:
https://doi.org/10.1016/j.ejmg.2018.11.005
RT Journal T1
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
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ejmg.2018.11.005&Exemplar=1&LAN=DE A1 Salinas, Valeria A1 Vega, Patricia A1 Piccirilli, María Victoria A1 Chicco, Carla A1 Ciraolo, Carlos A1 Christiansen, Silvia A1 Consalvo, Damián A1 Perez-Maturo, Josefina A1 Medina, Nancy A1 González-Morón, Dolores A1 Novaro, Virginia A1 Perrone, Cecilia A1 García, María del Carmen A1 Agosta, Guillermo A1 Silva, Walter A1 Kauffman, Marcelo PB Elsevier BV YR 2019 SN 1769-7212 JF European Journal of Medical Genetics VO 62 IS 11 SP 103571 LK http://dx.doi.org/https://doi.org/10.1016/j.ejmg.2018.11.005 DO https://doi.org/10.1016/j.ejmg.2018.11.005 SF ELIB - SuUB Bremen
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