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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EIF2S3

Variant:p.V406M

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EIF2S3

NM_001415.4:p.V406M

hg38:chrX:24073124 G>A

Associated Papers

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

Dang Do AN et al.

Molecular Genetics and Metabolism, 2025

41207135 (PubMed )

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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."