Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.F883delFs
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WFS1

NM_006005.3:p.F883delFs

Associated Papers

Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population.

Halabi I et al.

Frontiers in Pediatrics, 2025

The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing.

Wang DD et al.

Frontiers in Genetics, 2019

Wolfram syndrome and WFS1 gene.

Rigoli L et al.

Clinical Genetics, 2011

WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.

Yu G et al.

Endocrine, 2010

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.

Cano A et al.

American Journal of Medical Genetics. Part A, 2007

Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.

Hansen L et al.

European Journal of Human Genetics : Ejhg, 2005

Neuropathy in Wolfram syndrome.

Mathis S et al.

European Journal of Medical Genetics, 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."