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

Pirozzi F, Berkseth M, Shear R, Gonzalez L, Timms AE, Sulc J, Pao E, Oyama N, Forzano F, Conti V, Guerrini R, Doherty ES, Saitta SC, Lockwood CM, Pritchard CC, Dobyns WB, Novotny E, Wright JNN, Saneto RP, Friedman S, Hauptman J, Ojemann J, Kapur RP, Mirzaa GM. Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care. Brain. 2022 04 29; 145(3):925-938.

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