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: F2: 721C>G

PubMed Link: 33432707

Variant Present in the following documents:

• MGG3-9-e1593-s001.pdf

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Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.

Human Molecular Genetics

Carss, Keren J KJ; Hillman, Sarah C SC; Parthiban, Vijaya V; McMullan, Dominic J DJ; Maher, Eamonn R ER; Kilby, Mark D MD; Hurles, Matthew E ME

Publication Date: 2014-06-15

Variant appearance in text: F2: 721C>G

PubMed Link: 24476948

Variant Present in the following documents:

• Main text

View BVdb publication page