Varaico: Literature-Extracted Genetic Variants

Gene:EIF2S3
Variant:p.C269G
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EIF2S3

NM_001415.4:p.C269G

Associated Papers

MEHMO syndrome: Review and proposed classification as an eIF2-related neuroendocrinopathy.

Dang Do AN et al.

Molecular Genetics and Metabolism, 2025

Syndromic forms of congenital hyperinsulinism.

Zenker M et al.

Frontiers in Endocrinology, 2023

37065762 (PubMed )
Supplement: Table_1.xlsx › Other_rare_monogenic_syndromes

Ketogenic diet for refractory epilepsy with MEHMO syndrome: Caution for acute necrotizing pancreatitis.

Mori M et al.

Brain & Development, 2021

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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."