Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.W164*
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EIF2AK3

NM_004836.7:p.W164*

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

Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort.

Habeb AM et al.

Hormone Research in Paediatrics, 2015

Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review.

Habeb AM

The Libyan Journal of Medicine, 2013

Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature.

Ozbek MN et al.

Pediatric Diabetes, 2010

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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."