Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.C690_L693delFs
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WFS1

NM_006005.3:p.C690_L693delFs

Associated Papers

Novel Mutations of PAX6 and WFS1 Associated With Congenital Cataract in a Chinese Family.

Sheng D et al.

Cureus, 2023

Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings.

Zhang X et al.

Investigative Ophthalmology & Visual Science, 2022

A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1.

Gong Y et al.

Bmc Endocrine Disorders, 2021

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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."