Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B1
Variant:p.L49R
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EIF2B1

NM_001414.4:p.L49R

Associated Papers

Regulation and function of elF2B in neurological and metabolic disorders.

Hanson FM et al.

Bioscience Reports, 2022

De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction.

De Franco E et al.

Diabetes, 2020

Diabetic ketoacidosis in vanishing white matter.

Alamri H et al.

Clinical Case Reports, 2016

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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."