论文信息 - SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase C[Latin Small Letter Open E]) impairing TORC2-dependent AKT activation - 字舞流文

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase C[Latin Small Letter Open E]) impairing TORC2-dependent AKT activation

K. Boycott | T. Hartley | M. Tétreault | E. Bareke | J. Majewski | A. Innes | M. O’Driscoll | D. Dyment | F. Elmslie | Diana Alcantara | Dyment | A. David | M. Tetreault