Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.K634*
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WFS1

NM_006005.3:p.K634*

Associated Papers

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

Maamouri R et al.

Ophthalmic Genetics, 2023

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Li W et al.

Investigative Ophthalmology & Visual Science, 2023

36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant

The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing.

Wang DD et al.

Frontiers in Genetics, 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."