Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

Filomena Pirozzi, Matthew Berkseth, Rylee Shear, Lorenzo Gonzalez, Andrew E. Timms, Josef Sulc, Emily Pao, Nora Oyama, Francesca Forzano, Valerio Conti, Renzo Guerrini, Emily S. Doherty, Sulagna C. Saitta, Christina M. Lockwood, Colin C. Pritchard, William B. Dobyns, Edward Novotny, Jason N.N. Wright, Russell P. Saneto, Seth FriedmanJason Hauptman, Jeffrey Ojemann, Raj P. Kapur, Ghayda M. Mirzaa

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Medicine & Life Sciences