Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B2
Variant:p.E304*
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EIF2B2

NM_014239.4:p.E304*

Associated Papers

Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice.

Tucker EJ et al.

European Journal of Human Genetics : Ejhg, 2018

Analysis of eIF2B bodies and their relationships with stress granules and P-bodies.

Moon SL et al.

Scientific Reports, 2018

EIF2B2 mutations in vanishing white matter disease hypersuppress translation and delay recovery during the integrated stress response.

Moon SL et al.

Rna (new York, N.y.), 2018

The large spectrum of eIF2B-related diseases.

Fogli A et al.

Biochemical Society Transactions, 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."