Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.S411fs
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WFS1

NM_006005.3:p.S411fs

Associated Papers

Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.

Lee EM et al.

Frontiers in Genetics, 2023

37415600 (PubMed )
Supplement: DataSheet1.XLSX › Supplementary_Materials

A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene.

Lee J et al.

American Journal of Ophthalmology Case Reports, 2022

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."