Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.Y565delFs
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EIF2AK3

NM_004836.7:p.Y565delFs

Associated Papers

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

Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome.

Søvik O et al.

Journal of Inherited Metabolic Disease, 2008

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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."