Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B1
Variant:p.L291L
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EIF2B1

NM_001414.4:p.L291L

Associated Papers

Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.

Slynko I et al.

Molecular Genetics & Genomic Medicine, 2021

33432707 (PubMed )
Supplement: MGG3-9-e1593-s001.pdf

The spectrum of mutations for the diagnosis of vanishing white matter disease.

Scali O et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."