Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.W521*
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EIF2AK3

NM_004836.7:p.W521*

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

EIF2AK3 novel mutation in a child with early-onset diabetes mellitus, a case report.

Fatani TH

Bmc Pediatrics, 2019

A CRISPR/Cas9 Functional Screen Identifies Rare Tumor Suppressors.

Katigbak A et al.

Scientific Reports, 2016

27982060 (PubMed )
Supplement: srep38968-s2.xls › Sheet1

Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.

Demirbilek H et al.

European Journal of Endocrinology, 2015

Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome.

Ersoy B et al.

European Journal of Pediatrics, 2014

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

Flanagan SE et al.

Cell Metabolism, 2014

24411943 (PubMed )
Supplement: mmc1.pdf

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

Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.

Rubio-Cabezas O et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

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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."