Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.M1V
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EIF2AK3

NM_004836.7:p.M1V

Associated Papers

Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.

Moschella B et al.

Genes, 2025

Natural history of Wolcott-Rallison syndrome: A systematic review and follow-up study.

Aldrian D et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2024

38230874 (PubMed )
Supplement: supplement_1.pdf

Diabetes management in Wolcott-Rallison syndrome: analysis from the German/Austrian DPV database.

Welters A et al.

Orphanet Journal of Rare Diseases, 2020

Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia.

Rittiner JE et al.

Neuron, 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."