Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.F329I
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WFS1

NM_006005.3:p.F329I

Associated Papers

WFS1 gene mutation associated with pediatric diabetes mellitus and congenital deafness: A case report.

Gao AM et al.

World Journal of Diabetes, 2025

Characterization of Novel WFS1 Variants in Three Diabetes Pedigrees.

Liu C et al.

Journal of Diabetes, 2025

Novel WFS1 variants are associated with different diabetes phenotypes.

Wu L et al.

Frontiers in Genetics, 2024

High Prevalence of a Monogenic Cause in Han Chinese Diagnosed With Type 1 Diabetes, Partly Driven by Nonsyndromic Recessive WFS1 Mutations.

Li M et al.

Diabetes, 2020

Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.

Liu S et al.

International Journal of Molecular Medicine, 2016

Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.

Qian X et al.

Scientific Reports, 2015

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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."