Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.N682D
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WFS1

NM_006005.3:p.N682D

Associated Papers

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.

de Muijnck C et al.

Scientific Reports, 2024

Identification of the rare variant p.Val803Met of WFS1 gene as a cause of Wolfram-like syndrome in a Chinese family.

Deng H et al.

Acta Diabetologica, 2020

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.

Grenier J et al.

Ophthalmology, 2016

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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."