Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.L664P
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WFS1

NM_006005.3:p.L664P

Associated Papers

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.

Maamouri R et al.

Ophthalmic Genetics, 2023

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

Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin.

Wilf-Yarkoni A et al.

Neurology. Genetics, 2021

Wolfram syndrome and WFS1 gene.

Rigoli L et al.

Clinical Genetics, 2011

WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.

Yu G et al.

Endocrine, 2010

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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."