Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.C532*
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EIF2AK3

NM_004836.7:p.C532*

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

[A case report of EIF2AK3-related Wolcott-Rallison syndrome and literature review].

Zhang HJ et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019

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

Behnam B et al.

Hepatitis Monthly, 2013

A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.

Cui Y et al.

Orphanet Journal of Rare Diseases, 2012

[Two novel EIF2AK3 mutations in a Chinese boy with Wolcott-Rallison syndrome].

Feng DR et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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."