Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.F417del1
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WFS1

NM_006005.3:p.F417del1

Associated Papers

Ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome.

Ustaoglu M et al.

European Journal of Ophthalmology, 2020

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

Wang DD et al.

Frontiers in Genetics, 2019

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.

De Franco E et al.

Diabetes, 2017

[A novel mutation of WFS1 gene in Chinese patients with Wolfram syndrome].

Fang QC et al.

Zhonghua Yi Xue Za Zhi, 2005

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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."