Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.L432R
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WFS1

NM_006005.3:p.L432R

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

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.

De Franco E et al.

Diabetes, 2017

[Wolfram syndrome: clinical features, molecular genetics of WFS1 gene].

Tanabe K et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2015

Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.

Matsunaga K et al.

Plos One, 2014

[Positional cloning of the gene(WFS1) for Wolfram syndrome].

Tanizawa Y et al.

Rinsho Byori. the Japanese Journal of Clinical Pathology, 2000

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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."