Kiani, Aysha Karim AK; Bonetti, Gabriele G; Donato, Kevin K; Kaftalli, Jurgen J; Herbst, Karen L KL; Stuppia, Liborio L; Fioretti, Francesco F; Nodari, Savina S; Perrone, Marco M; Chiurazzi, Pietro P; Bellinato, Francesco F; Gisondi, Paolo P; Bertelli, Matteo M
Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.
Molecular Genetics & Genomic Medicine
Slynko, Inna I; Nguyen, Stephanie S; Hamilton, Eline M C EMC; Wisse, Lisanne E LE; de Esch, Iwan J P IJP; de Graaf, Chris C; Bruning, John B JB; Proud, Christopher G CG; Abbink, Truus E M TEM; van der Knaap, Marjo S MS
Publication Date: 2021-03
Variant appearance in text: F2: 1459G>A; Glu487Lys