Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.C690W
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WFS1

NM_006005.3:p.C690W

Associated Papers

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

Maamouri R et al.

Ophthalmic Genetics, 2023

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

Wolfram syndrome: clinical and genetic profiling of a cohort from a tertiary care centre with characterization of the primary gonadal failure.

Das L et al.

Endocrine, 2020

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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."