Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.Y739*
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WFS1

NM_006005.3:p.Y739*

Associated Papers

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

Compound heterozygous mutations in WFS1 cause atypical Wolfram syndrome.

Pan YD et al.

Chinese Medical Journal, 2019

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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."