Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B4
Variant:p.M273T
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EIF2B4

NM_001034116.2:p.M273T

Associated Papers

A yeast purification system for human translation initiation factors eIF2 and eIF2Bε and their use in the diagnosis of CACH/VWM disease.

de Almeida RA et al.

Plos One, 2013

[Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].

Carra-Dalliere C et al.

Revue Neurologique, 2011

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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."