Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.E524_I525delFs
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EIF2AK3

NM_004836.7:p.E524_I525delFs

Associated Papers

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes.

Mianesaz H et al.

Journal of Diabetes Investigation, 2024

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

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

The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar.

Al-Khawaga S et al.

Molecular Genetics & Genomic Medicine, 2019

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

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

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."