Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.E420delFs
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EIF2AK3

NM_004836.7:p.E420delFs

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

Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates.

Deeb A et al.

American Journal of Medical Genetics. Part A, 2016

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.

De Franco E et al.

Lancet (london, England), 2015

26231457 (PubMed )
Supplement: mmc1.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

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

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

Habeb AM

The Libyan Journal of Medicine, 2013

Variable phenotype in five patients with Wolcott-Rallison syndrome due to the same EIF2AK3 (c.1259delA) mutation.

Al-Shawi M et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2013

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."