Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B2
Variant:p.M226K
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EIF2B2

NM_014239.4:p.M226K

Associated Papers

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

Yoon JG et al.

Genome Medicine, 2025

40770811 (PubMed )
Supplement: 13073_2025_1513_MOESM2_ESM.xlsx › ST3

eIF2B-related multisystem disorder in two sisters with atypical presentations.

Lee JS et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2017

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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."