Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.V813M
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WFS1

NM_006005.3:p.V813M

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

Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.

Likar T et al.

Plos One, 2018

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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."