Publications:

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: SI: 947T>A; Val316Asp

PubMed Link: 33432707

Variant Present in the following documents:

• MGG3-9-e1593-s001.pdf

View BVdb publication page