Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.R383C
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WFS1

NM_006005.3:p.R383C

Associated Papers

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.

Li J et al.

Biomed Research International, 2021

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.

Iwasa YI et al.

Plos One, 2016

Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder.

Kawamoto T et al.

Molecular Genetics and Metabolism, 2004

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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."