Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.Q398*
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EIF2AK3

NM_004836.7:p.Q398*

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

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

Polla DL et al.

Plos One, 2015

Recurrent Hepatitis in Two Iranian Children: A Novel (Q166R) Mutation in EIF2AK3 Leading to Wolcott-Rallison Syndrome.

Behnam B et al.

Hepatitis Monthly, 2013

Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome.

Reis AF et al.

Pediatric Diabetes, 2011

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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."