Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.W522*
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EIF2AK3

NM_004836.7:p.W522*

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

An Infant With Neonatal Diabetes and Double Outlet Right Ventricle - Wolcott- Rallison syndrome.

Bejiqi R et al.

Medical Archives (sarajevo, Bosnia and Herzegovina), 2018

Relative hypoaldosteronism in a patient with Wolcott-Rallison syndrome.

Uçar A et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2016

Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases.

Collardeau-Frachon S et al.

Pediatric Diabetes, 2015

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

Wolcott Rallison syndrome: a rare inherited diabetes mellitus.

Khare S et al.

Indian Journal of Pediatrics, 2014

EIF2AK3 mutations in South Indian children with permanent neonatal diabetes mellitus associated with Wolcott-Rallison syndrome.

Jahnavi S et al.

Pediatric Diabetes, 2014

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

Habeb AM

The Libyan Journal of Medicine, 2013

Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia.

Habeb AM et al.

Pediatric Diabetes, 2012

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

Reis AF et al.

Pediatric Diabetes, 2011

Wolcott-Rallison syndrome.

Julier C et al.

Orphanet Journal of Rare Diseases, 2010

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

THE 3rd W522X MUTATION IN EIF2AK3 GENE FROM TURKEY: A NEW PATIENT WITH WOLCOTT-RALLISON SYNDROME.

Bahsi T et al.

Genetic Counseling (geneva, Switzerland), 0

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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."